List of diseases covered by Combined Pituitary Hormone Deficiency NGS panel

Published 08/08/2018

List of diseases covered by
Combined Pituitary Hormone Deficiency NGS panel

Gene Condition
HESX1 Pituitary hormone deficiency, combined, 5
LHX3 Pituitary hormone deficiency, combined, 3
LHX4 Pituitary hormone deficiency, combined, 4
OTX2 Pituitary hormone deficiency, combined, 6;
Retinal dystrophy, early-onset, with or without pituitary dysfunction
POU1F1 Pituitary hormone deficiency, combined, 1
PROP1 Pituitary hormone deficiency, combined, 2

List of diseases covered by Thyroid Dyshormonogenesis NGS panel

Published 08/08/2018

List of diseases covered by
Thyroid Dyshormonogenesis NGS panel

Gene Condition
DUOX2 Thyroid dyshormonogenesis 6
DUOXA2 Thyroid dyshormonogenesis 5
IYD Thyroid dyshormonogenesis 4
SLC5A5 Thyroid dyshormonogenesis 1
TG Thyroid dyshormonogenesis 3;
Autoimmune thyroid disease, susceptibility to, 3
TPO Thyroid dyshormonogenesis 2A

List of diseases covered by Fanconi Anemia NGS panel

Published 08/08/2018

List of diseases covered by
Fanconi Anemia NGS panel

Gene Condition
BRCA2 Fanconi anemia, complementation group D1; Wilms tumor;
Breast cancer, male, susceptibility to;
Breast-ovarian cancer, familial, 2; Glioblastoma 3;
Medulloblastoma; Pancreatic cancer 2; Prostate cancer
BRIP1 Breast cancer, early-onset; Fanconi anemia, complementation group J
ERCC4 Xeroderma pigmentosum, group F;
Fanconi anemia, complementation group Q;
XFE progeroid syndrome
FANCA Fanconi anemia, complementation group A
FANCB Fanconi anemia, complementation group B
FANCC Fanconi anemia, complementation group C
FANCD2 Fanconi anemia, complementation group D2
FANCE Fanconi anemia, complementation group E
FANCF Fanconi anemia, complementation group F
FANCG Fanconi anemia, complementation group G
FANCI Fanconi anemia, complementation group I
FANCL Fanconi anemia, complementation group L
PALB2 Breast cancer, susceptibility to;
Pancreatic cancer, susceptibility to, 3;
Fanconi anemia, complementation group N
RAD51C Breast-ovarian cancer, familial, susceptibility to, 3;
Fanconi anemia, complementation group O
SLX4 Fanconi anemia, complementation group P
XRCC2 Fanconi anemia, complementation group U

List of diseases covered by Zellweger Spectrum Disorders NGS panel

Published 07/08/2018

List of diseases covered by
Zellweger Spectrum Disorders NGS panel

Gene Condition
PEX1 Peroxisome biogenesis disorder 1A (Zellweger);
Peroxisome biogenesis disorder 1B (NALD/IRD); Heimler syndrome 1
PEX2 Peroxisome biogenesis disorder 5A (Zellweger);
Peroxisome biogenesis disorder 5B
PEX3 Peroxisome biogenesis disorder 10B;
Peroxisome biogenesis disorder 10A (Zellweger)
PEX5 Peroxisome biogenesis disorder 2A (Zellweger);
Peroxisome biogenesis disorder 2B;
Rhizomelic chondrodysplasia punctata, type 5
PEX6 Peroxisome biogenesis disorder 4A (Zellweger);
Peroxisome biogenesis disorder 4B; Heimler syndrome 2
PEX7 Peroxisome biogenesis disorder 9B;
Rhizomelic chondrodysplasia punctata, type 1
PEX10 Peroxisome biogenesis disorder 6A (Zellweger);
Peroxisome biogenesis disorder 6B
PEX12 Peroxisome biogenesis disorder 3A (Zellweger);
Peroxisome biogenesis disorder 3B
PEX13 Peroxisome biogenesis disorder 11A (Zellweger);
Peroxisome biogenesis disorder 11B
PEX14 Peroxisome biogenesis disorder 13A (Zellweger)
PEX16 Peroxisome biogenesis disorder 8A (Zellweger);
Peroxisome biogenesis disorder 8B
PEX19 Peroxisome biogenesis disorder 12A (Zellweger)
PEX26 Peroxisome biogenesis disorder 7A (Zellweger);
Peroxisome biogenesis disorder 7B
PHYH Refsum disease

List of diseases covered by Waardenburg Syndrome NGS panel

Published 03/08/2018

List of diseases covered by
Waardenburg Syndrome NGS panel

Gene Condition
EDN3 Waardenburg syndrome, type 4B
EDNRB Waardenburg syndrome, type 4A; ABCD syndrome
MITF Waardenburg syndrome, type 2A;
Waardenburg syndrome/ocular albinism, digenic; COMMAD syndrome;
Tietz albinism-deafness syndrome
PAX3 Waardenburg syndrome, type 1; Waardenburg syndrome, type 3;
Craniofacial-deafness-hand syndrome; Rhabdomyosarcoma 2, alveolar
SNAI2 Waardenburg syndrome, type 2D; Piebaldism
SOX10 Waardenburg syndrome, type 2E, with or without neurologic involvement;
Waardenburg syndrome, type 4C; PCWH syndrome
TYR Waardenburg syndrome/albinism, digenic;
Albinism, oculocutaneous, type IA; Albinism, oculocutaneous, type IB

List of diseases covered by Usher Syndrome NGS panel

Published 31/07/2018

List of diseases covered by Usher Syndrome NGS panel

Gene Condition
ABHD12 Polyneuropathy, hearing loss,
ataxia, retinitis pigmentosa, and cataract
ADGRV1 Usher syndrome, type 2C
CDH23 Usher syndrome, type 1D;
Deafness, autosomal recessive 12
CIB2 Usher syndrome, type IJ;
Deafness, autosomal recessive 48
CLRN1 Usher syndrome, type 3A;
Retinitis pigmentosa 61
COL4A6 Deafness, X-linked 6
DSPP Deafness, autosomal dominant 39,
with dentinogenesis
GIPC3 Deafness, autosomal recessive 15
HARS1 Usher syndrome type 3B
KARS1 Deafness, autosomal recessive 89
LHFPL5 Deafness, autosomal recessive 67
LOXHD1 Deafness, autosomal recessive 77
MYO7A Usher syndrome, type 1B;
Deafness, autosomal recessive 2; Deafness, autosomal dominant 11
PCDH15 Usher syndrome, type 1F;
Usher syndrome, type 1D/F digenic;
Deafness, autosomal recessive 23
PDZD7 Usher syndrome, type IIC, GPR98/PDZD7 digenic
TNC Deafness, autosomal dominant 56
USH2A Usher syndrome, type 2A; Retinitis pigmentosa 39
USH1C Usher syndrome, type 1C;
Deafness, autosomal recessive 18A
USH1G Usher syndrome, type 1G
WHRN Usher syndrome, type 2D;
Deafness, autosomal recessive 31

List of diseases covered by Stickler Syndrome NGS panel

Published 31/07/2018

List of diseases covered by
Stickler Syndrome NGS panel

Gene Condition
COL2A1 Stickler syndrome type 1;
Stickler sydrome, type I, nonsyndromic ocular;
Achondrogenesis, type II or hypochondrogenesis;
Avascular necrosis of the femoral head; Czech dysplasia;
Epiphyseal dysplasia, multiple, with myopia and deafness;
Kniest dysplasia; Legg-Calve-Perthes disease; Legg-Calve-Perthes disease;
Osteoarthritis with mild chondrodysplasia;
Platyspondylic skeletal dysplasia, Torrance type; SED congenita;
SMED Strudwick type; Spondyloepiphyseal dysplasia, Stanescu type;
Spondyloperipheral dysplasia
COL9A1 Stickler syndrome, type IV; Epiphyseal dysplasia, multiple, 6
COL9A2 Stickler syndrome, type V; Epiphyseal dysplasia, multiple, 2
COL9A3 Epiphyseal dysplasia, multiple, 3, with or without myopathy
COL11A1 Stickler syndrome, type II; Fibrochondrogenesis 1; Marshall syndrome
COL11A2 Deafness, autosomal dominant 13;
Deafness, autosomal recessive 53; Fibrochondrogenesis 2;
Otospondylomegaepiphyseal dysplasia, autosomal dominant;
Otospondylomegaepiphyseal dysplasia, autosomal recessive

List of diseases covered by Sensorineural Hearing loss NGS panel

Published 30/07/2018

List of diseases covered by
Sensorineural Hearing loss NGS panel

Gene Condition
ACTG1 Deafness, autosomal dominant 20/26; Baraitser-Winter syndrome 2
ADGRV1 Usher syndrome, type 2C, GPR98/PDZD7 digenic;
Febrile seizures, familial, 4
ATP2B2 Deafness, autosomal recessive 12, modifier of
ATP6V1B1 Renal tubular acidosis with deafness
BSND Sensorineural deafness with mild renal dysfunction
CCDC50 Deafness, autosomal dominant 44
CDH23 Usher syndrome, type 1D;
Deafness, autosomal recessive 12
CEACAM16 Deafness, autosomal dominant 4B
CIB2 Usher syndrome, type IJ;
Deafness, autosomal recessive 48
CLDN14 Deafness, autosomal recessive 29
CLRN1 Usher syndrome, type 3A;
Retinitis pigmentosa 61
COCH Deafness, autosomal dominant 9
COL11A2 Deafness, autosomal dominant 13;
Deafness, autosomal recessive 53; Fibrochondrogenesis 2;
Otospondylomegaepiphyseal dysplasia, autosomal dominant;
Otospondylomegaepiphyseal dysplasia, autosomal recessive
CRYM Deafness, autosomal dominant 40
DFNA5 Deafness, autosomal dominant 5
DFNB59 Deafness, autosomal recessive 59
DIABLO Deafness, autosomal dominant 64
DIAPH1 Deafness, autosomal dominant 1;
Seizures, cortical blindness, microcephaly syndrome
DIAPH3 Auditory neuropathy, autosomal dominant, 1
ESPN Deafness, autosomal recessive 36
ESRRB Deafness, autosomal recessive 35
EYA4 Deafness, autosomal dominant 10
FOXI1 Enlarged vestibular aqueduct
GIPC3 Deafness, autosomal recessive 15
GJB2 Bart-Pumphrey syndrome; Deafness, autosomal dominant 3A;
Deafness, autosomal recessive 1A;
Hystrix-like ichthyosis with deafness;
Keratitis-ichthyosis-deafness syndrome;
Keratoderma, palmoplantar, with deafness; Vohwinkel syndrome
GJB3 Deafness, autosomal dominant 2B; Deafness, digenic, GJB2/GJB3;
Erythrokeratodermia variabilis et progressiva 1
GJB6 Deafness, autosomal dominant 3B;
Deafness, autosomal recessive 1B; Deafness, digenic GJB2/GJB6;
Ectodermal dysplasia 2, Clouston type
GPSM2 Chudley-McCullough syndrome
GRHL2 Deafness, autosomal dominant 28;
Corneal dystrophy, posterior polymorphous, 4;
Ectodermal dysplasia/short stature syndrome
GRXCR1 Deafness, autosomal recessive 25
HARS1 Usher syndrome type 3B
HGF Deafness, autosomal recessive 39
ILDR1 Deafness, autosomal recessive 42
KCNJ10 Enlarged vestibular aqueduct, digenic; SESAME syndrome
KCNQ4 Deafness, autosomal dominant 2A
LHFPL5 Deafness, autosomal recessive 67
LOXHD1 Deafness, autosomal recessive 77
LRTOMT Deafness, autosomal recessive 63
MAN2B1 Mannosidosis, alpha-, types I and II
MARVELD2 Deafness, autosomal recessive 49
MIR96 Deafness, autosomal dominant 50
MSRB3 Deafness, autosomal recessive 74
MYH14 Deafness, autosomal dominant 4A;
Peripheral neuropathy, myopathy, hoarseness, and hearing loss
MYH9 Deafness, autosomal dominant 17;
Macrothrombocytopenia and granulocyte inclusions
with or without nephritis or sensorineural hearing loss
MYO15A Deafness, autosomal recessive 3
MYO3A Deafness, autosomal recessive 30
MYO6 Deafness, autosomal dominant 22;
Deafness, autosomal recessive 37
MYO7A Usher syndrome, type 1B;
Deafness, autosomal recessive 2; Deafness, autosomal dominant 11
OTOA Deafness, autosomal recessive 22
OTOF Deafness, autosomal recessive 9
PCDH15 Usher syndrome, type 1F;
Usher syndrome, type 1D/F digenic;
Deafness, autosomal recessive 23
PDZD7 Usher syndrome, type IIC, GPR98/PDZD7 digenic
POU3F4 Deafness, X-linked 2
POU4F3 Deafness, autosomal dominant 15
PRPS1 Deafness, X-linked 1;
Charcot-Marie-Tooth disease, X-linked recessive, 5; Arts syndrome; Gout,
PRPS-related
PTPRQ Deafness, autosomal dominant 73;
Deafness, autosomal recessive 84A
RDX Deafness, autosomal recessive 24
SERPINB6 Deafness, autosomal recessive 91
SIX1 Deafness, autosomal dominant 23;
Branchiootic syndrome 3
SLC17A8 Deafness, autosomal dominant 25
SLC26A4 Deafness, autosomal recessive 4,
with enlarged vestibular aqueduct; Pendred syndrome
SLC26A5 Deafness, autosomal recessive 61
SMPX Deafness, X-linked 4
STRC Deafness, autosomal recessive 16
TECTA Deafness, autosomal dominant 8/12;
Deafness, autosomal recessive 21
TJP2 Cholestasis, progressive familial intrahepatic 4;
Hypercholanemia, familial
TMC1 Deafness, autosomal dominant 36;
Deafness, autosomal recessive 7
TMIE Deafness, autosomal recessive 6
TMPRSS3 Deafness, autosomal recessive 8/10
TPRN Deafness, autosomal recessive 79
TRIOBP Deafness, autosomal recessive 28
TRMU Deafness, mitochondrial, modifier of;
Liver failure, transient infantile
USH2A Usher syndrome, type 2A; Retinitis pigmentosa 39
USH1C Usher syndrome, type 1C;
Deafness, autosomal recessive 18A
USH1G Usher syndrome, type 1G
WFS1 Deafness, autosomal dominant 6/14/38; Cataract 41;
Wolfram syndrome 1; Wolfram-like syndrome, autosomal dominant;
Diabetes mellitus, noninsulin-dependent, association with
WHRN Usher syndrome, type 2D

List of diseases covered by Long QT Syndrome NGS panel

Published 26/07/2018

List of diseases covered by Long QT Syndrome
NGS panel

Gene Condition
AKAP9 Long QT syndrome 11
ANK2 Cardiac arrhythmia, ankyrin B-related
CACNA1C Brugada syndrome 3
CALM1 Long QT syndrome 14;
Ventricular tachycardia, catecholaminergic polymorphic, 4
CAV3 Familial hypertrophic cardiomyopathy 1; Long QT syndrome 9
KCNE1 Long QT syndrome 5;
Jervell and Lange-Nielsen syndrome 2
KCNE2 Atrial fibrillation, familial, 4;
Long QT syndrome 6
KCNJ2 Andersen Tawil syndrome;
Atrial fibrillation, familial, 9; Short QT syndrome 3
KCNJ5 Long QT syndrome 13; Hyperaldosteronism, familial, type III
KCNQ1 Atrial fibrillation, familial, 3;
Jervell and Lange-Nielsen syndrome 1; Long QT syndrome 1;
Short QT syndrome 2
SCN5A Atrial fibrillation, familial, 10; Brugada syndrome 1;
Dilated cardiomyopathy 1E; Long QT syndrome 3;
Sick sinus syndrome 1, autosomal recessive;
Paroxysmal familial ventricular fibrillation 1
SCN4B Long QT syndrome-10
SNTA1 Long QT syndrome 12

List of diseases covered by Hypertrophic Cardiomyopathy NGS panel

Published 25/07/2018

List of diseases covered by
Hypertrophic Cardiomyopathy NGS panel

Gene Condition
ACTC1 Atrial septal defect 5; Cardiomyopathy, dilated, 1R;
Cardiomyopathy, hypertrophic, 11
ACTN2 Cardiomyopathy, dilated, 1AA, with or without LVNC
AGK Sengers syndrome; Cataract 38, autosomal recessive
CALR3 Cardiomyopathy, hypertrophic, 19
CAV3 Familial hypertrophic cardiomyopathy 1; Long QT syndrome 9
CRYAB Cardiomyopathy, dilated, 1II; Cataract 16, multiple types;
Myopathy, myofibrillar, 2;
Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related
CSRP3 Cardiomyopathy, dilated, 1M; Cardiomyopathy, hypertrophic, 12
FLNC Cardiomyopathy, familial restrictive 5; Myopathy, distal, 4;
Myopathy, myofibrillar, 5
GLA Fabry disease, cardiac variant
JPH2 Cardiomyopathy, hypertrophic, 17
LAMP2 Danon disease
LDB3 Cardiomyopathy, dilated, 1C, with or without LVNC;
Myopathy, myofibrillar, 4
MYBPC3 Cardiomyopathy, dilated, 1MM; Cardiomyopathy, hypertrophic, 4
MYH6 Atrial septal defect 3; Cardiomyopathy, dilated, 1EE;
Cardiomyopathy, hypertrophic, 14
MYH7 Cardiomyopathy, dilated, 1S; Cardiomyopathy, hypertrophic, 1;
Laing distal myopathy; Myopathy, myosin storage, autosomal dominant;
Myopathy, myosin storage, autosomal recessive;
Scapuloperoneal syndrome, myopathic type
MYL2 Cardiomyopathy, hypertrophic, 10
MYL3 Cardiomyopathy, hypertrophic, 8
MYLK2 Cardiomyopathy, hypertrophic, 1, digenic
MYOZ2 Cardiomyopathy, hypertrophic, 16
MYPN Cardiomyopathy, dilated, 1KK;
Nemaline myopathy 11, autosomal recessive
NEXN Cardiomyopathy, dilated, 1CC; Cardiomyopathy, hypertrophic, 20
PLN Dilated cardiomyopathy 1P; Familial hypertrophic cardiomyopathy 18
PRKAG2 Cardiomyopathy, hypertrophic 6;
Glycogen storage disease of heart, lethal congenital;
Wolff-Parkinson-White syndrome
RAF1 Cardiomyopathy, dilated, 1NN; LEOPARD syndrome 2; Noonan syndrome 5
SLC25A4 Mitochondrial DNA depletion syndrome 12A
(cardiomyopathic type) AD;
Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR;
Progressive external ophthalmoplegia with mitochondrial DNA deletions,
autosomal dominant 2
SOS1 Noonan syndrome 4;
TCAP Cardiomyopathy, hypertrophic, 25;
Muscular dystrophy, limb-girdle, type 2G
TNNC1 Cardiomyopathy, dilated, 1Z; Cardiomyopathy, hypertrophic, 13
TNNI3 Cardiomyopathy, dilated, 2A; Cardiomyopathy, dilated, 1FF;
Cardiomyopathy, familial restrictive, 1; Cardiomyopathy, hypertrophic, 7
TNNT2 Cardiomyopathy, dilated, 1D; Cardiomyopathy, familial restrictive, 3;
Cardiomyopathy, hypertrophic, 2
TPM1 Cardiomyopathy, dilated, 1Y; Cardiomyopathy, hypertrophic, 3
TTN Cardiomyopathy, dilated, 1G; Cardiomyopathy, familial hypertrophic, 9;
Muscular dystrophy, limb-girdle, type 2J;
Myopathy, proximal, with early respiratory muscle involvement;
Salih myopathy; Tibial muscular dystrophy, tardive
TTR Amyloidosis, hereditary, transthyretin-related;
Carpal tunnel syndrome, familial
VCL Cardiomyopathy, dilated, 1W; Cardiomyopathy, hypertrophic, 15

List of diseases covered by Familial Thoracic Aortic Aneurysm and Dissection and Related Syndromes NGS panel

Published 24/07/2018

List of diseases covered by
Familial Thoracic Aortic Aneurysm and Dissection and Related Syndromes
NGS panel

Gene Condition
ACTA2 Aortic aneurysm, familial thoracic 6; Moyamoya disease 5;
Multisystemic smooth muscle dysfunction syndrome
BGN Meester-Loeys syndrome;
Spondyloepimetaphyseal dysplasia, X-linked
COL3A1 Ehlers-Danlos syndrome, vascular type
COL5A1 Ehlers-Danlos syndrome, classic type, 1
FBN1 Marfan syndrome; Marfan lipodystrophy syndrome; MASS syndrome;
Acromicric dysplasia; Ectopia lentis, familial; Geleophysic dysplasia 2;
Stiff skin syndrome; Weill-Marchesani syndrome 2, dominant
LOX Aortic aneurysm, familial thoracic 10
MFAP5 Aortic aneurysm, familial thoracic 9
MYH11 Aortic aneurysm, familial thoracic 4
MYLK Aortic aneurysm, familial thoracic 7
NOTCH1 Aortic valve disease 1; Adams-Oliver syndrome 5
PRKG1 Aortic aneurysm, familial thoracic 8
TGFB2 Loeys-Dietz syndrome 4
TGFB3 Arrhythmogenic right ventricular dysplasia 1;
Loeys-Dietz syndrome 5
TGFBR1 Loeys-Dietz syndrome 1
TGFBR2 Loeys-Dietz syndrome 2

List of diseases covered by Dilated Cardiomyopathy NGS panel

Published 23/07/2018

List of diseases covered by
Dilated Cardiomyopathy NGS panel

Gene Condition
ABCC9 Atrial fibrillation, familial, 12; Dilated cardiomyopathy 1O
ACTC1 Atrial septal defect 5; Cardiomyopathy, dilated, 1R;
Cardiomyopathy, hypertrophic, 11
ACTN2 Cardiomyopathy, dilated, 1AA, with or without LVNC
BAG3 Cardiomyopathy, dilated, 1HH; Myopathy, myofibrillar, 6
CSRP3 Cardiomyopathy, dilated, 1M; Cardiomyopathy, hypertrophic, 12
CRYAB Cardiomyopathy, dilated, 1II; Cataract 16, multiple types;
Myopathy, myofibrillar, 2; Myopathy, myofibrillar, fatal infantile hypertonic,
alpha-B crystallin-related
DES Dilated cardiomyopathy 1I
DMD Becker muscular dystrophy; Cardiomyopathy, dilated, 3B;
Duchenne muscular dystrophy
DNAJC19 3-methylglutaconic aciduria, type V
DOLK Congenital disorder of glycosylation, type Im
DSC2 Arrhythmogenic right ventricular cardiomyopathy, type 11
DSG2 Arrhythmogenic right ventricular cardiomyopathy, type 10;
Dilated cardiomyopathy 1BB
DSP Arrhythmogenic right ventricular cardiomyopathy, type 8;
Cardiomyopathy dilated with woolly hair and keratoderma;
Cardiomyopathy, dilated, with woolly hair, keratoderma,
and tooth agenesis
EMD Emery-Dreifuss muscular dystrophy 1, X-linked
EYA4 Cardiomyopathy, dilated, 1J; Deafness, autosomal dominant 10
GATAD1 Cardiomyopathy, dilated, 2B
JUP Arrhythmogenic right ventricular cardiomyopathy, type 12;
Naxos disease
LAMA4 Cardiomyopathy, dilated, 1JJ
LAMP2 Danon disease
LDB3 Cardiomyopathy, dilated, 1C, with or without LVNC;
Myopathy, myofibrillar, 4
LMNA Muscular dystrophy, limb-girdle, type 1B;
Charcot-Marie-Tooth disease, type 2B1;
Cardiomyopathy, dilated, 1A;
Emery-Dreifuss muscular dystrophy 2, AD;
Emery-Dreifuss muscular dystrophy 3, AR;
Muscular dystrophy, congenital
MYBPC3 Cardiomyopathy, dilated, 1MM; Cardiomyopathy, hypertrophic, 4
MYH6 Atrial septal defect 3; Cardiomyopathy, dilated, 1EE;
Cardiomyopathy, hypertrophic, 14
MYH7 Cardiomyopathy, dilated, 1S; Cardiomyopathy, hypertrophic, 1;
Laing distal myopathy; Myopathy, myosin storage, autosomal dominant;
Myopathy, myosin storage, autosomal recessive;
Scapuloperoneal syndrome, myopathic type
MYPN Cardiomyopathy, dilated, 1KK; Nemaline myopathy 11, autosomal recessive
NEXN Cardiomyopathy, dilated, 1CC; Cardiomyopathy, hypertrophic, 20
PKP2 Arrhythmogenic right ventricular cardiomyopathy, type 9
PLN Dilated cardiomyopathy 1P; Familial hypertrophic cardiomyopathy 18
RAF1 Cardiomyopathy, dilated, 1NN; LEOPARD syndrome 2; Noonan syndrome 5
RBM20 Cardiomyopathy, dilated, 1DD
SCN5A Atrial fibrillation, familial, 10; Brugada syndrome 1;
Dilated cardiomyopathy 1E; Long QT syndrome 3;
Sick sinus syndrome 1, autosomal recessive;
Paroxysmal familial ventricular fibrillation 1
SGCD Cardiomyopathy, dilated, 1L; Muscular dystrophy, limb-girdle, type 2F
TAZ Barth syndrome
TBX20 Atrial septal defect 4
TCAP Cardiomyopathy, hypertrophic, 25;
Muscular dystrophy, limb-girdle, type 2G
TNNC1 Cardiomyopathy, dilated, 1Z; Cardiomyopathy, hypertrophic, 13
TNNI3 Cardiomyopathy, dilated, 2A; Cardiomyopathy, dilated, 1FF;
Cardiomyopathy, familial restrictive, 1; Cardiomyopathy, hypertrophic, 7
TNNT2 Cardiomyopathy, dilated, 1D; Cardiomyopathy, familial restrictive, 3;
Cardiomyopathy, hypertrophic, 2
TPM1 Cardiomyopathy, dilated, 1Y; Cardiomyopathy, hypertrophic, 3
TTN Cardiomyopathy, dilated, 1G; Cardiomyopathy, familial hypertrophic, 9;
Muscular dystrophy, limb-girdle, type 2J;
Myopathy, proximal, with early respiratory muscle involvement; Salih myopathy;
Tibial muscular dystrophy, tardive
TTR Amyloidosis, hereditary, transthyretin-related;
Carpal tunnel syndrome, familial
VCL Cardiomyopathy, dilated, 1W; Cardiomyopathy, hypertrophic, 15

List of diseases covered by Brugada Syndrome NGS panel

Published 13/07/2018

List of diseases covered by
Brugada Syndrome NGS panel

Gene Condition
CACNA1C Brugada syndrome 3
CACNB2 Brugada syndrome 4
GPD1L Brugada syndrome 2
HCN4 Brugada syndrome 8;
Sick sinus syndrome 2, autosomal dominant
KCND3 Brugada syndrome 9
KCNE3 Brugada syndrome 6
KCNJ8 Cantu syndrome, KCNJ8 related
SCN5A Atrial fibrillation, familial, 10; Brugada syndrome 1;
Dilated cardiomyopathy 1E; Long QT syndrome 3;
Sick sinus syndrome 1, autosomal recessive;
Paroxysmal familial ventricular fibrillation 1
SCN1B Atrial fibrillation, familial, 13; Brugada syndrome 5
SCN2B Atrial fibrillation, familial, 14
SCN3B Brugada syndrome 7
TRPM4 Progressive familial heart block, type IB

List of diseases covered by Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy NGS panel

Published 12/07/2018

List of diseases covered by Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy
NGS panel

Gene Condition
CTNNA3 Arrhythmogenic right ventricular dysplasia, familial, 13
DES Dilated cardiomyopathy 1I
DSC2 Arrhythmogenic right ventricular cardiomyopathy, type 11
DSG2 Arrhythmogenic right ventricular cardiomyopathy, type 10;
Dilated cardiomyopathy 1BB
DSP Arrhythmogenic right ventricular cardiomyopathy, type 8;
Cardiomyopathy dilated with woolly hair and keratoderma;
Cardiomyopathy, dilated, with woolly hair, keratoderma,
and tooth agenesis
FLNC Arrhythmogenic right ventricular dysplasia, familial;
Cardiomyopathy, familial hypertrophic, 26;
Cardiomyopathy, familial restrictive 5;
Myopathy, distal, 4;
Myopathy, myofibrillar, 5
JUP Arrhythmogenic right ventricular cardiomyopathy, type 12;
Naxos disease
LDB3 Cardiomyopathy, dilated, 1C, with or without LVNC;
Myopathy, myofibrillar, 4
LMNA Muscular dystrophy, limb-girdle, type 1B;
Charcot-Marie-Tooth disease, type 2B1;
Cardiomyopathy, dilated, 1A;
Emery-Dreifuss muscular dystrophy 2, AD;
Emery-Dreifuss muscular dystrophy 3, AR;
Muscular dystrophy, congenital
PKP2 Arrhythmogenic right ventricular cardiomyopathy, type 9
PLN Dilated cardiomyopathy 1P; Familial hypertrophic cardiomyopathy 18
RYR2 Arrhythmogenic right ventricular dysplasia, familial, 2;
Catecholaminergic polymorphic ventricular tachycardia type 1
TGFB3 Arrhythmogenic right ventricular dysplasia, familial 1
TMEM43 Arrhythmogenic right ventricular cardiomyopathy, type 5
TTN Muscular dystrophy, limb-girdle, type 2J;
Myopathy, proximal, with early respiratory muscle involvement;
Salih myopathy; Tibial muscular dystrophy, tardive;
Cardiomyopathy, dilated, 1G; Cardiomyopathy, familial hypertrophic, 9

List of diseases covered by Thyroid Cancer NGS panel

Published 12/07/2018

List of diseases covered by
Thyroid Cancer NGS panel

Gene Condition
APC Adenomatous polyposis coli; Colorectal cancer, somatic;
Desmoid disease, hereditary; Gardner syndrome;
Gastric cancer, somatic; Hepatoblastoma, somatic
CDC73 Hyperparathyroidism, familial primary;
Hyperparathyroidism-jaw tumor syndrome; Parathyroid carcinoma
DICER1 Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors;
Pleuropulmonary blastoma; Rhabdomyosarcoma, embryonal, 2
MEN1 Multiple endocrine neoplasia 1
PRKAR1A Acrodysostosis 1, with or without hormone resistance;
Carney complex, type 1; Myxoma, intracardiac;
Pigmented nodular adrenocortical disease, primary, 1
PTEN Glioma susceptibility 2, Meningioma, Macrocephaly/autism syndrome;
Endometrial carcinoma, somatic; Malignant melanoma, somatic;
Squamous cell carcinoma, head and neck, somatic; Prostate cancer, somatic;
VATER association with macrocephaly and ventriculomegaly;
Bannayan-Riley-Ruvalcaba syndrome; Cowden syndrome 1
RET Medullary thyroid carcinoma;
Central hypoventilation syndrome, congenital;
Multiple endocrine neoplasia IIA; Multiple endocrine neoplasia IIB;
Pheochromocytoma; Hirschsprung disease, susceptibility to, 1
SDHB Cowden syndrome 2; Gastrointestinal stromal tumor;
Paraganglioma and gastric stromal sarcoma; Paragangliomas 4;
Pheochromocytoma
SDHD Carcinoid tumors, intestinal; Cowden syndrome 3;
Mitochondrial complex II deficiency;
Paraganglioma and gastric stromal sarcoma; Pheochromocytoma
TP53 Breast cancer; Adrenal cortical carcinoma;
Choroid plexus papilloma;
Colorectal cancer; Li-Fraumeni syndrome;
Nasopharyngeal carcinoma; Osteosarcoma; Pancreatic cancer;
Basal cell carcinoma 7;
Glioma susceptibility 1

List of diseases covered by Polyposis Syndromes NGS panel

Published 12/07/2018

List of diseases covered by
Polyposis Syndromes NGS panel

Gene Condition
APC Adenomatous polyposis coli; Colorectal cancer, somatic;
Desmoid disease, hereditary; Gardner syndrome;
Gastric cancer, somatic; Hepatoblastoma, somatic
BMPR1A Juvenile polyposis syndrome, infantile form;
Polyposis syndrome, hereditary mixed, 2
MUTYH Adenomas, multiple colorectal;
Colorectal adenomatous polyposis, autosomal recessive,
with pilomatricomas; Gastric cancer, somatic
PTEN Glioma susceptibility 2, Meningioma, Macrocephaly/autism syndrome;
Endometrial carcinoma, somatic; Malignant melanoma, somatic;
Squamous cell carcinoma, head and neck, somatic; Prostate cancer, somatic;
VATER association with macrocephaly and ventriculomegaly;
Bannayan-Riley-Ruvalcaba syndrome; Cowden syndrome 1
SMAD4 Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome;
Myhre syndrome; Pancreatic cancer, somatic; Polyposis, juvenile intestinal
STK11 Pancreatic cancer; Peutz-Jeghers syndrome;
Testicular tumor, somatic

List of diseases covered by Fanconi Anemia NGS panel

Published 12/07/2018

List of diseases covered by
Fanconi Anemia NGS panel

Gene Condition
BRCA2 Fanconi anemia, complementation group D1; Wilms tumor;
Breast cancer, male, susceptibility to;
Breast-ovarian cancer, familial, 2; Glioblastoma 3;
Medulloblastoma; Pancreatic cancer 2; Prostate cancer
BRIP1 Breast cancer, early-onset; Fanconi anemia, complementation group J
ERCC4 Xeroderma pigmentosum, group F;
Fanconi anemia, complementation group Q;
XFE progeroid syndrome
FANCA Fanconi anemia, complementation group A
FANCB Fanconi anemia, complementation group B
FANCC Fanconi anemia, complementation group C
FANCD2 Fanconi anemia, complementation group D2
FANCE Fanconi anemia, complementation group E
FANCF Fanconi anemia, complementation group F
FANCG Fanconi anemia, complementation group G
FANCI Fanconi anemia, complementation group I
FANCL Fanconi anemia, complementation group L
PALB2 Breast cancer, susceptibility to;
Pancreatic cancer, susceptibility to, 3;
Fanconi anemia, complementation group N
RAD51C Breast-ovarian cancer, familial, susceptibility to, 3;
Fanconi anemia, complementation group O
SLX4 Fanconi anemia, complementation group P
XRCC2 Fanconi anemia, complementation group U

List of diseases covered by Cancer Predisposition NGS panel

Published 12/07/2018

List of diseases covered by
Cancer Predisposition NGS panel

Gene Condition
AIP Pituitary adenoma 1, multiple types
ALK Neuroblastoma, susceptibility to, 3
APC Adenomatous polyposis coli; Colorectal cancer, somatic;
Desmoid disease, hereditary; Gardner syndrome;
Gastric cancer, somatic; Hepatoblastoma, somatic
ATM Ataxia-telangiectasia; Breast cancer, susceptibility to
BAP1 Tumor predisposition syndrome
BARD1 Breast cancer, susceptibility to
BLM Bloom syndrome
BMPR1A Juvenile polyposis syndrome, infantile form;
Polyposis syndrome, hereditary mixed, 2
BRCA1 Breast-ovarian cancer, familial, 1; Pancreatic cancer, susceptibility to, 4;
Fanconi anemia, complementation group S
BRCA2 Fanconi anemia, complementation group D1; Wilms tumor;
Breast cancer, male, susceptibility to;
Breast-ovarian cancer, familial, 2; Glioblastoma 3;
Medulloblastoma; Pancreatic cancer 2; Prostate cancer
BRIP1 Breast cancer, early-onset; Fanconi anemia, complementation group J
BUB1B Colorectal cancer, somatic; Mosaic variegated aneuploidy syndrome 1;
Premature chromatid separation trait; Colorectal cancer, somatic
CDC73 Hyperparathyroidism, familial primary;
Hyperparathyroidism-jaw tumor syndrome; Parathyroid carcinoma
CDH1 Breast cancer, lobular; Prostate cancer, susceptibility to;
Endometrial carcinoma, somatic; Ovarian carcinoma, somatic;
Blepharocheilodontic syndrome 1;
Gastric cancer, familial diffuse, with or without cleft lip and/or palate
CDK4 Melanoma, cutaneous malignant, 3
CDKN1C Beckwith-Wiedemann syndrome; IMAGE syndrome
CDKN2A Melanoma and neural system tumor syndrome;
Pancreatic cancer/melanoma syndrome;
Melanoma, cutaneous malignant, 2
CEBPA Leukemia, acute myeloid
CEP57 Mosaic variegated aneuploidy syndrome 2
CHEK2 Breast cancer, susceptibility to; Prostate cancer, familial, susceptibility to;
Li-Fraumeni syndrome; Osteosarcoma, somatic
CYLD Trichoepithelioma, multiple familial, 1; Brooke-Spiegler syndrome;
Cylindromatosis, familial
DDB2 Xeroderma pigmentosum, group E, DDB-negative subtype
DICER1 Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors;
Pleuropulmonary blastoma; Rhabdomyosarcoma, embryonal, 2
DIS3L2 Perlman syndrome
EGFR Adenocarcinoma of lung, response to tyrosine kinase inhibitor in
EPCAM Colorectal cancer, hereditary nonpolyposis, type 8;
Diarrhea 5, with tufting enteropathy, congenital
ERCC2 Xeroderma pigmentosum, group D;
Cerebrooculofacioskeletal syndrome 2;
Trichothiodystrophy 1, photosensitive
ERCC3 Xeroderma pigmentosum, group B;
Trichothiodystrophy 2, photosensitive
ERCC4 Xeroderma pigmentosum, group F;
Fanconi anemia, complementation group Q;
XFE progeroid syndrome
ERCC5 Xeroderma pigmentosum, group G;
Cerebrooculofacioskeletal syndrome 3
EXT1 Chondrosarcoma; Exostoses, multiple, type 1
EXT2 Exostoses, multiple, type 2;
Seizures, scoliosis, and macrocephaly syndrome
EZH2 Weaver syndrome
FANCA Fanconi anemia, complementation group A
FANCB Fanconi anemia, complementation group B
FANCC Fanconi anemia, complementation group C
FANCD2 Fanconi anemia, complementation group D2
FANCE Fanconi anemia, complementation group E
FANCF Fanconi anemia, complementation group F
FANCG Fanconi anemia, complementation group G
FANCI Fanconi anemia, complementation group I
FANCL Fanconi anemia, complementation group L
FH Leiomyomatosis and renal cell cancer; Fumarase deficiency
FLCN Birt-Hogg-Dube syndrome; Pneumothorax, primary spontaneous;
Colorectal cancer, somatic; Renal carcinoma, chromophobe, somatic
GATA2 Emberger syndrome; Immunodeficiency 21;
Leukemia, acute myeloid, susceptibility to;
Myelodysplastic syndrome, susceptibility to
GPC3 Simpson-Golabi-Behmel syndrome, type 1; Wilms tumor, somatic
HNF1A Renal cell carcinoma; Hepatic adenoma, somatic;
Diabetes mellitus, insulin-dependent, 20; MODY, type III;
Diabetes mellitus, insulin-dependent;
Diabetes mellitus, noninsulin-dependent, 2
HRAS Costello syndrome; Schimmelpenning-Feuerstein-Mims syndrome,
somatic mosaic; Bladder cancer, somatic;
Nevus sebaceous or woolly hair nevus, somatic;
Spitz nevus or nevus spilus, somatic; Thyroid carcinoma, follicular, somatic
KIT Gastrointestinal stromal tumor, familial; Germ cell tumors, somatic;
Leukemia, acute myeloid; Mastocytosis, cutaneous; Piebaldism
MAX Pheochromocytoma, susceptibility to
MEN1 Multiple endocrine neoplasia 1
MET Hepatocellular carcinoma, childhood type, somatic;
Renal cell carcinoma, papillary, 1, familial and somatic;
Deafness, autosomal recessive 97; Osteofibrous dysplasia, susceptibility to
MITF Melanoma, cutaneous malignant, susceptibility to, 8;
COMMAD syndrome; Tietz albinism-deafness syndrome;
Waardenburg syndrome, type 2A;
Waardenburg syndrome/ocular albinism, digenic
MLH1 Mismatch repair cancer syndrome;
Colorectal cancer, hereditary nonpolyposis, type 2; Muir-Torre syndrome
MRE11A Ataxia-telangiectasia-like disorder 1
MSH2 Mismatch repair cancer syndrome;
Colorectal cancer, hereditary nonpolyposis, type 1; Muir-Torre syndrome
MSH6 Mismatch repair cancer syndrome;
Colorectal cancer, hereditary nonpolyposis, type 5;
Endometrial cancer, familial
MUTYH Adenomas, multiple colorectal;
Colorectal adenomatous polyposis, autosomal recessive,
with pilomatricomas; Gastric cancer, somatic
NBN Nijmegen breakage syndrome; Leukemia, acute lymphoblastic;
Aplastic anemia
NF1 Neurofibromatosis, type 1
NF2 Meningioma, NF2-related, somatic; Neurofibromatosis, type 2;
Schwannomatosis, somatic
NSD1 Leukemia, acute myeloid; Sotos syndrome 1
NTHL1 Familial adenomatous polyposis 3
PALB2 Breast cancer, susceptibility to;
Pancreatic cancer, susceptibility to, 3;
Fanconi anemia, complementation group N
PHOX2B Neuroblastoma with Hirschsprung disease;
Central hypoventilation syndrome, congenital,
with or without Hirschsprung disease
POLD1 Colorectal cancer, susceptibility to, 10;
Mandibular hypoplasia, deafness, progeroid features,
and lipodystrophy syndrome
PRF1 Aplastic anemia; Hemophagocytic lymphohistiocytosis, familial, 2;
Lymphoma, non-Hodgkin
PRKAR1A Acrodysostosis 1, with or without hormone resistance;
Carney complex, type 1; Myxoma, intracardiac;
Pigmented nodular adrenocortical disease, primary, 1
PRSS1 Pancreatitis, hereditary; Trypsinogen deficiency
PTCH1 Basal cell nevus syndrome; Holoprosencephaly 7;
Basal cell carcinoma, somatic
PTEN Glioma susceptibility 2, Meningioma, Macrocephaly/autism syndrome;
Endometrial carcinoma, somatic; Malignant melanoma, somatic;
Squamous cell carcinoma, head and neck, somatic; Prostate cancer, somatic;
VATER association with macrocephaly and ventriculomegaly;
Bannayan-Riley-Ruvalcaba syndrome; Cowden syndrome 1
RAD50 Nijmegen breakage syndrome-like disorder
RAD51C Breast-ovarian cancer, familial, susceptibility to, 3;
Fanconi anemia, complementation group O
RAD51D Breast-ovarian cancer, familial, susceptibility to, 4
RB1 Bladder cancer, somatic; Osteosarcoma, somatic; Retinoblastoma;
Small cell cancer of the lung, somatic
RECQL4 Baller-Gerold syndrome; RAPADILINO syndrome;
Rothmund-Thomson syndrome
RET Medullary thyroid carcinoma;
Central hypoventilation syndrome, congenital;
Multiple endocrine neoplasia IIA; Multiple endocrine neoplasia IIB;
Pheochromocytoma; Hirschsprung disease, susceptibility to, 1
RHBDF2 Tylosis with esophageal cancer
RUNX1 Leukemia, acute myeloid; Platelet disorder, familial,
with associated myeloid malignancy
SBDS Shwachman-Diamond syndrome; Aplastic anemia, susceptibility to
SDHA Cardiomyopathy, dilated, 1GG; Leigh syndrome;
Mitochondrial respiratory chain complex II deficiency; Paragangliomas 5
SDHAF2 Paragangliomas 2
SDHB Cowden syndrome 2; Gastrointestinal stromal tumor;
Paraganglioma and gastric stromal sarcoma; Paragangliomas 4;
Pheochromocytoma
SDHC Gastrointestinal stromal tumor;
Paraganglioma and gastric stromal sarcoma; Paragangliomas 3
SDHD Carcinoid tumors, intestinal; Cowden syndrome 3;
Mitochondrial complex II deficiency;
Paraganglioma and gastric stromal sarcoma; Pheochromocytoma
SLX4 Fanconi anemia, complementation group P
SMAD4 Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome;
Myhre syndrome; Pancreatic cancer, somatic; Polyposis, juvenile intestinal
SMARCB1 Coffin-Siris syndrome 3;
Rhabdoid tumor predisposition syndrome 1;
Schwannomatosis-1, susceptibility to
STK11 Pancreatic cancer; Peutz-Jeghers syndrome;
Testicular tumor, somatic
SUFU Basal cell nevus syndrome; Joubert syndrome 32;
Medulloblastoma, desmoplastic; Meningioma, familial, susceptibility to
TMEM127 Pheochromocytoma, susceptibility to
TP53 Breast cancer; Adrenal cortical carcinoma;
Choroid plexus papilloma;
Colorectal cancer; Li-Fraumeni syndrome;
Nasopharyngeal carcinoma; Osteosarcoma; Pancreatic cancer;
Basal cell carcinoma 7;
Glioma susceptibility 1
TSC1 Focal cortical dysplasia, type II, somatic;
Lymphangioleiomyomatosis; Tuberous sclerosis-1
TSC2 Focal cortical dysplasia, type II, somatic;
Lymphangioleiomyomatosis, somatic; Tuberous sclerosis-2
VHL Erythrocytosis, familial, 2; Pheochromocytoma;
Renal cell carcinoma, somatic; von Hippel-Lindau syndrome
WRN Werner syndrome
WT1 Wilms tumor, type 1; Denys-Drash syndrome;
Frasier syndrome; Meacham syndrome; Mesothelioma, somatic;
Nephrotic syndrome, type 4
XPA Xeroderma pigmentosum, group A
XPC Xeroderma pigmentosum, group C
XRCC2 Fanconi anemia, complementation group U

List of diseases covered by Breast and Ovarian Cancer NGS panel

Published 06/07/2018

List of diseases covered by
Breast and Ovarian Cancer NGS panel

Gene Condition
ATM Ataxia-telangiectasia; Breast cancer, susceptibility to
BARD1 Breast cancer, susceptibility to
BRCA1 Breast-ovarian cancer, familial, 1; Pancreatic cancer, susceptibility to, 4;
Fanconi anemia, complementation group S
BRCA2 Fanconi anemia, complementation group D1; Wilms tumor;
Breast cancer, male, susceptibility to;
Breast-ovarian cancer, familial, 2; Glioblastoma 3;
Medulloblastoma; Pancreatic cancer 2; Prostate cancer
BRIP1 Breast cancer, early-onset; Fanconi anemia, complementation group J
CDH1 Breast cancer, lobular; Prostate cancer, susceptibility to;
Endometrial carcinoma, somatic; Ovarian carcinoma, somatic;
Blepharocheilodontic syndrome 1;
Gastric cancer, familial diffuse, with or without cleft lip and/or palate<
CHEK2 Breast cancer, susceptibility to; Prostate cancer, familial, susceptibility to;
Li-Fraumeni syndrome; Osteosarcoma, somatic
MEN1 Multiple endocrine neoplasia 1
MLH1 Mismatch repair cancer syndrome;
Colorectal cancer, hereditary nonpolyposis, type 2; Muir-Torre syndrome
MRE11A Ataxia-telangiectasia-like disorder 1
MSH2 Mismatch repair cancer syndrome;
Colorectal cancer, hereditary nonpolyposis, type 1; Muir-Torre syndrome
MSH6 Mismatch repair cancer syndrome;
Colorectal cancer, hereditary nonpolyposis, type 5;
Endometrial cancer, familial
MUTYH Adenomas, multiple colorectal;
Colorectal adenomatous polyposis, autosomal recessive,
with pilomatricomas; Gastric cancer, somatic
NBN Nijmegen breakage syndrome; Leukemia, acute lymphoblastic;
Aplastic anemia
PALB2 Breast cancer, susceptibility to; Pancreatic cancer, susceptibility to, 3;
Fanconi anemia, complementation group N
PTCH1 Basal cell nevus syndrome; Holoprosencephaly 7; Basal cell carcinoma, somatic
PTEN Glioma susceptibility 2, Meningioma, Macrocephaly/autism syndrome;
Endometrial carcinoma, somatic; Malignant melanoma, somatic;
Squamous cell carcinoma, head and neck, somatic; Prostate cancer, somatic;
VATER association with macrocephaly and ventriculomegaly;
Bannayan-Riley-Ruvalcaba syndrome; Cowden syndrome 1
RAD50 Nijmegen breakage syndrome-like disorder
RAD51C Breast-ovarian cancer, familial, susceptibility to, 3;
Fanconi anemia, complementation group O
RAD51D Breast-ovarian cancer, familial, susceptibility to, 4
STK11 Pancreatic cancer; Peutz-Jeghers syndrome; Testicular tumor, somatic
TP53 Breast cancer; Adrenal cortical carcinoma;
Choroid plexus papilloma;
Colorectal cancer; Li-Fraumeni syndrome;
Nasopharyngeal carcinoma; Osteosarcoma; Pancreatic cancer;
Basal cell carcinoma 7;
Glioma susceptibility 1
XRCC2 Fanconi anemia, complementation group U

List of diseases covered by Ashkenazi Jewish diseases NGS panel

Published 02/07/2018

List of diseases covered by
Ashkenazi Jewish diseases NGS panel

Gene Condition
ABCC8 Diabetes mellitus, noninsulin-dependent;
Diabetes mellitus, permanent neonatal;
Diabetes mellitus, transient neonatal 2;
Hyperinsulinemic hypoglycemia, familial, 1;
Hypoglycemia of infancy, leucine-sensitive
AGL Glycogen storage disease IIIa
ASPA Canavan disease
BCKDHB Maple syrup urine disease, type Ib
BLM Bloom syndrome
BRCA1 Fanconi anemia, complementation group S;
Breast-ovarian cancer, familial, 1; Pancreatic cancer, susceptibility to, 4
BRCA2 Fanconi anemia, complementation group D1; Wilms tumor;
Breast cancer, male, susceptibility to;
Breast-ovarian cancer, familial, 2; Glioblastoma 3;
Medulloblastoma; Pancreatic cancer 2; Prostate cancer
CFTR Cystic fibrosis; Congenital bilateral absence of vas deferens;
Bronchiectasis with or without elevated sweat chloride 1,
modifier of; Pancreatitis, hereditary
CLRN1 Retinitis pigmentosa 61; Usher syndrome, type 3A
DLD Dihydrolipoamide dehydrogenase deficiency
F11 Factor XI deficiency, autosomal dominant;
Factor XI deficiency, autosomal recessive
FANCC Fanconi anemia, complementation group C
FKTN Muscular dystrophy-dystroglycanopathy
(congenital with brain and eye anomalies), type A, 4;
Muscular dystrophy-dystroglycanopathy
(congenital without mental retardation), type B, 4;
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4;
Cardiomyopathy, dilated, 1X
GBA Gaucher disease, perinatal lethal; Gaucher disease, type I;
Gaucher disease, type II; Gaucher disease, type III;
Gaucher disease, type IIIc
GJB2 Bart-Pumphrey syndrome; Deafness, autosomal dominant 3A;
Deafness, autosomal recessive 1A;
Hystrix-like ichthyosis with deafness;
Keratitis-ichthyosis-deafness syndrome;
Keratoderma, palmoplantar, with deafness; Vohwinkel syndrome
G6PC Glycogen storage disease Ia
HEXA Tay-Sachs disease
IKBKAP Dysautonomia, familial
LCA5 Leber congenital amaurosis 5
LDLR Hypercholesterolemia, familial
LRRK2 Parkinson disease 8
MCOLN1 Mucolipidosis IV
MEFV Familial Mediterranean fever, AD; Familial Mediterranean fever, AR
MSH2 Colorectal cancer, hereditary nonpolyposis, type 1;
Mismatch repair cancer syndrome; Muir-Torre syndrome
MSH6 Colorectal cancer, hereditary nonpolyposis, type 5;
Endometrial cancer, familial; Mismatch repair cancer syndrome
NEB Nemaline myopathy 2, autosomal recessive
PCDH15 Deafness, autosomal recessive 23; Usher syndrome, type 1D/F digenic;
Usher syndrome, type 1F
SERPINA1 Emphysema due to AAT deficiency;
Pulmonary disease, chronic obstructive, susceptibility to
SMN1 Spinal muscular atrophy-1; Spinal muscular atrophy-2;
Spinal muscular atrophy-3; Spinal muscular atrophy-4
SMPD1 Niemann-Pick disease, type A; Niemann-Pick disease, type B
TMEM216 Joubert syndrome 2; Meckel syndrome 2
TOR1A Dystonia-1, torsion

List of diseases covered by Urea Cycle Disorder NGS panel

Published 02/07/2018

List of diseases covered by
Urea Cycle Disorder NGS panel

Gene Condition
ARG1 Argininemia
ASL Argininosuccinic aciduria
ASS1 Citrullinemia
CPS1 Carbamoylphosphate synthetase I deficiency
NAGS N-acetylglutamate synthase deficiency
OAT Gyrate atrophy of choroid and retina with or without ornithinemia
OTC Ornithine transcarbamylase deficiency
SLC7A7 Lysinuric protein intolerance
SLC25A13 Citrullinemia, adult-onset type II; Citrullinemia, type II, neonatal-onset
SLC25A15 Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome

List of diseases covered by Porphyria NGS panel

Published 02/07/2018

List of diseases covered by
Porphyria NGS panel

Gene Condition
ALAD Porphyria, acute hepatic
ALAS2 Protoporphyria, erythropoietic, X-linked; Anemia, sideroblastic, 1
CPOX Coproporphyria
FECH Protoporphyria, erythropoietic, 1
HFE Hemochromatosis; Porphyria cutanea tarda, susceptibility to;
Porphyria variegata, susceptibility to
HMBS Porphyria, acute intermittent
PPOX Porphyria variegata
UROD Porphyria cutanea tarda
UROS Porphyria, congenital erythropoietic

List of diseases covered by Methylmalonic Aciduria and Homocystinuria NGS panel

Published 02/07/2018

List of diseases covered by
Methylmalonic Aciduria and Homocystinuria NGS panel

Gene Condition
ABCD4 Methylmalonic aciduria and homocystinuria, cblJ type
ACSF3 Combined malonic and methylmalonic aciduria
AMN Megaloblastic anemia-1, Norwegian type
CBLIF Intrinsic factor deficiency
CBS Homocystinuria, B6-responsive and nonresponsive types
CD320 Methylmalonic aciduria, transient, due to transcobalamin receptor defect
CUBN Megaloblastic anemia-1, Finnish type
IVD Isovaleric acidemia
LMBRD1 Methylmalonic aciduria and homocystinuria, cblF type
MCEE Methylmalonyl-CoA epimerase deficiency
MLYCD Malonyl-CoA decarboxylase deficiency
MMAA Methylmalonic aciduria, vitamin B12-responsive
MMAB Methylmalonic aciduria, vitamin B12-responsive,
due to defect in synthesis of adenosylcobalamin,
cblB complementation type
MMACHC Methylmalonic aciduria and homocystinuria, cblC type
MMADHC Methylmalonic aciduria and homocystinuria, cblD type
MTHFR Homocystinuria due to MTHFR deficiency
MTR Homocystinuria-megaloblastic anemia, cblG complementation type
MTRR Homocystinuria-megaloblastic anemia, cbl E type
MUT Methylmalonic aciduria, mut(0) type
SUCLA2 Mitochondrial DNA depletion syndrome 5
(encephalomyopathic with or without methylmalonic aciduria)
SUCLG1 Mitochondrial DNA depletion syndrome 9
(encephalomyopathic type with methylmalonic aciduria)
TCN2 Transcobalamin II deficiency

List of diseases covered by Metabolic Myopathy and Rhabdomyolysis NGS panel

Published 02/07/2018

List of diseases covered by
Metabolic Myopathy and Rhabdomyolysis NGS panel

Gene Condition
ABHD5 Chanarin-Dorfman syndrome
ACAD9 Mitochondrial complex I deficiency due to ACAD9 deficiency
ACADM Acyl-CoA dehydrogenase, medium chain, deficiency of
ACADVL VLCAD deficiency
AGL Glycogen storage disease IIIa
ALDOA Glycogen storage disease XII
AMPD1 Myopathy due to myoadenylate deaminase deficiency
ANO5 Gnathodiaphyseal dysplasia; Miyoshi muscular dystrophy 3; Muscular dystrophy, limb-girdle, autosomal recessive 12
CAV3 Muscular dystrophy, limb-girdle, type IC;
Cardiomyopathy, familial hypertrophic;
Creatine phosphokinase, elevated serum;
Long QT syndrome 9; Myopathy, distal, Tateyama type;
Rippling muscle disease
CPT2 CPT II deficiency, infantile; CPT II deficiency, lethal neonatal;
CPT II deficiency, myopathic, stress-induced
DGUOK Mitochondrial DNA depletion syndrome 3 (hepatocerebral type); Portal hypertension, noncirrhotic, 1; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4
DMD Becker muscular dystrophy; Cardiomyopathy, dilated, 3B; Duchenne muscular dystrophy
DYSF Miyoshi muscular dystrophy 1; Muscular dystrophy, limb-girdle, autosomal recessive 2; Myopathy, distal, with anterior tibial onset
EPM2A Myoclonic epilepsy of Lafora 1
ENO3 Glycogen storage disease XIII
ETFA Glutaric acidemia IIA
ETFB Glutaric acidemia IIB
ETFDH Glutaric acidemia IIC
FDX1L (FDX2) Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy
FLAD1 Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency
FKRP Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5; Muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), type B, 5; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5
GAA Glycogen storage disease II
GBA1 {Lewy body dementia, susceptibility to} {Parkinson disease, late-onset, susceptibility to} Gaucher disease, perinatal lethal; Gaucher disease, type I; Gaucher disease, type II; Gaucher disease, type III; Gaucher disease, type IIIC
GBE1 Glycogen storage disease IV; Polyglucosan body disease, adult form
GYG1 Glycogen storage disease XV; Polyglucosan body myopathy 2
GYS1 Glycogen storage disease 0, muscle
HADHA LCHAD deficiency; Trifunctional protein deficiency
HADHB Trifunctional protein deficiency
ISCU Myopathy with lactic acidosis, hereditary
LDHA Glycogen storage disease XI
LPIN1 Myoglobinuria, acute recurrent, autosomal recessive
NHLRC1 Myoclonic epilepsy of Lafora 2
OPA1 Mitochondrial DNA depletion syndrome 14;
Behr syndrome; Optic atrophy 1; Optic atrophy plus syndrome
OPA3 3-methylglutaconic aciduria, type III; Optic atrophy 3 with cataract
PHKB Phosphorylase kinase deficiency of liver and muscle, autosomal recessive
PFKM Glycogen storage disease VII
PGAM2 Glycogen storage disease X
PGK1 Phosphoglycerate kinase 1 deficiency
PGM1 Congenital disorder of glycosylation, type It
PHKA1 Muscle glycogenosis
PNPLA2 Neutral lipid storage disease with myopathy
PRKAG2 Cardiomyopathy, hypertrophic 6;
Glycogen storage disease of heart, lethal congenital;
Wolff-Parkinson-White syndrome
RBCK1 Polyglucosan body myopathy 1 with or without immunodeficiency
POLG Mitochondrial DNA depletion syndrome 4A;
Mitochondrial DNA depletion syndrome 4B;
Mitochondrial recessive ataxia syndrome;
Progressive external ophthalmoplegia, autosomal dominant 1;
Progressive external ophthalmoplegia, autosomal recessive 1
POLG2 Progressive external ophthalmoplegia
with mitochondrial DNA deletions, autosomal dominant 4
PYGM McArdle disease
RRM2B Mitochondrial DNA depletion syndrome 8A;
Progressive external ophthalmoplegia
with mitochondrial DNA deletions, autosomal dominant 5
RYR1 Minicore myopathy with external ophthalmoplegia;
Central core disease; Malignant hyperthermia, susceptibility to, 1
SCN4A Hyperkalemic periodic paralysis, type 2;
Hypokalemic periodic paralysis, type 2; Myasthenic syndrome, congenital, 16;
Myotonia congenita, atypical, acetazolamide-responsive;
Paramyotonia congenita
SIL1 Marinesco-Sjogren syndrome
SLC22A5 Carnitine deficiency, systemic primary
SLC25A20 Carnitine-acylcarnitine translocase deficiency
SUCLA2 Mitochondrial DNA depletion syndrome 5
SLC52A1 Riboflavin deficiency
SLC52A2 Brown-Vialetto-Van Laere syndrome 2
SLC52A3 Brown-Vialetto-Van Laere syndrome 1
TANGO2 Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration
TAZ Barth syndrome
TSEN54 Pontocerebellar hypoplasia type 5; Pontocerebellar hypoplasia type 2A; Pontocerebellar hypoplasia type 4
TK2 Progressive external ophthalmoplegia
with mitochondrial DNA deletions, autosomal recessive 3;
TWNK Perrault syndrome 5; Mitochondrial DNA depletion syndrome 7;
Progressive external ophthalmoplegia
with mitochondrial DNA deletions, autosomal dominant 3
TYMP Mitochondrial DNA depletion syndrome 1 (MNGIE type)

List of diseases covered by Lysosomal Storage Disease NGS panel

Published 19/06/2018

List of diseases covered by
Lysosomal Storage Disease NGS panel

Gene Condition
AGA Aspartylglucosaminuria
ARSA Metachromatic leukodystrophy
ARSB Mucopolysaccharidosis type VI (Maroteaux-Lamy)
ASAH1 Farber lipogranulomatosis;
Spinal muscular atrophy with progressive myoclonic epilepsy
CLN3 Ceroid lipofuscinosis, neuronal, 3
CLN5 Ceroid lipofuscinosis, neuronal, 5
CLN6 Ceroid lipofuscinosis, neuronal, 6;
Ceroid lipofuscinosis, neuronal, Kufs type, adult onset
CLN8 Ceroid lipofuscinosis, neuronal, 8;
Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant
CTNS Cystinosis, atypical nephropathic;
Cystinosis, late-onset juvenile or adolescent nephropathic;
Cystinosis, ocular nonnephropathic
CTSA Galactosialidosis
CTSC Haim-Munk syndrome; Papillon-Lefevre syndrome;
Periodontitis 1, juvenile
CTSD Ceroid lipofuscinosis, neuronal, 10
CTSK Pycnodysostosis
DNAJC5 Ceroid lipofuscinosis, neuronal, 4, Parry type
FUCA1 Fucosidosis
GAA Glycogen storage disease II
GALC Krabbe disease
GALNS Mucopolysaccharidosis IVA
GBA Gaucher disease, perinatal lethal; Gaucher disease, type I;
Gaucher disease, type II; Gaucher disease, type III;
Gaucher disease, type IIIc
GLA Fabry disease
GLB1 GM1-gangliosidosis, type I; GM1-gangliosidosis, type II;
GM1-gangliosidosis, type III;
Mucopolysaccharidosis type IVB (Morquio)
GM2A GM2-gangliosidosis, AB variant
GNPTAB Mucolipidosis II alpha/beta; Mucolipidosis III alpha/beta
GNPTG Mucolipidosis III gamma
GNS Mucopolysaccharidosis type IIID
GUSB Mucopolysaccharidosis VII
HEXA GM2-gangliosidosis, several forms
HEXB Sandhoff disease, infantile, juvenile, and adult forms
HGSNAT Mucopolysaccharidosis type IIIC (Sanfilippo C);
Retinitis pigmentosa 73
HYAL1 Mucopolysaccharidosis type IX
IDS Mucopolysaccharidosis II
IDUA Mucopolysaccharidosis Ih; Mucopolysaccharidosis Ih/s;
Mucopolysaccharidosis Is
LAMP2 Danon disease
LIPA Cholesteryl ester storage disease
MAN2B1 Mannosidosis, alpha-, types I and II
MANBA Mannosidosis, beta
MCOLN1 Mucolipidosis IV
MFSD8 Ceroid lipofuscinosis, neuronal, 7;
Macular dystrophy with central cone involvement
NAGA Kanzaki disease; Schindler disease, type I
NAGLU Mucopolysaccharidosis type IIIB (Sanfilippo B);
Charcot-Marie-Tooth disease, axonal, type 2V
NEU1 Sialidosis, type I
NPC1 Niemann-Pick disease, type C1
NPC2 Niemann-pick disease, type C2
PPT1 Ceroid lipofuscinosis, neuronal, 1
PSAP Combined SAP deficiency; Gaucher disease, atypical;
Krabbe disease, atypical; ‘
Metachromatic leukodystrophy due to SAP-b deficiency
SGSH Mucopolysaccharidosis type IIIA (Sanfilippo A)
SLC17A5 Sialic acid storage disorder, infantile; Salla disease
SMPD1 Niemann-Pick disease, type A; Niemann-Pick disease, type B
SUMF1 Multiple sulfatase deficiency
TPP1 Ceroid lipofuscinosis, neuronal, 2;
Spinocerebellar ataxia, autosomal recessive 7

List of diseases covered by Hereditary Ataxia NGS panel

Published 18/06/2018

List of diseases covered by
Hereditary Ataxia NGS panel

Gene Condition
ABCB7 Anemia, sideroblastic, with ataxia
ABHD12 Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract
ACO2 Infantile cerebellar-retinal degeneration; Optic atrophy 9
AFG3L2 Spinocerebellar ataxia 28;
Spastic ataxia 5, autosomal recessive
AHI1 Joubert syndrome 3
ANO10 Spinocerebellar ataxia, autosomal recessive 10
APTX Ataxia, early-onset,
with oculomotor apraxia and hypoalbuminemia
ATCAY Ataxia, cerebellar, Cayman type
ATG5 Spinocerebellar ataxia, autosomal recessive 25
ATM Ataxia-telangiectasia
ATP1A2 Migraine, familial hemiplegic, 2; Migraine, familial basilar
ATP1A3 Alternating hemiplegia of childhood 2;
CAPOS syndrome; Dystonia-12
ATP8A2 Cerebellar ataxia, mental retardation,
and dysequilibrium syndrome 4
ATP2B3 Spinocerebellar ataxia, X-linked 1
CA8 Cerebellar ataxia and mental retardation with
or without quadrupedal locomotion 3
CACNA1A Spinocerebellar ataxia 6; Epileptic encephalopathy, early infantile, 42;
Episodic ataxia, type 2;
Migraine, familial hemiplegic, 1
CACNA1G Spinocerebellar ataxia 42;
Spinocerebellar ataxia 42, early-onset, severe,
with neurodevelopmental deficits
CACNB4 Episodic ataxia, type 5;
Epilepsy, idiopathic generalized, susceptibility to, 9;
Epilepsy, juvenile myoclonic, susceptibility to, 6
CAMTA1 Spastic ataxia with variable other neurologicalfeatures
CAPN1 Spastic paraplegia 76
CASK FG syndrome 4; Mental retardation and microcephaly
with pontine and cerebellar hypoplasia;
Mental retardation, with or without nystagmus
CC2D2A COACH syndrome; Meckel syndrome 6; Joubert syndrome 9
CCDC88C Spinocerebellar ataxia 40;
Hydrocephalus, nonsyndromic, autosomal recessive
CEP290 Joubert syndrome 5; Leber congenital amaurosis 10;
Meckel syndrome 4; Senior-Loken syndrome 6
CHP1 Spastic ataxia 9
CHRNA4 Epilepsy, nocturnal frontal lobe, 1
CLCN2 Leukoencephalopathy with ataxia;
Epilepsy, juvenile absence, susceptibility to, 2
CLN5 Ceroid lipofuscinosis, neuronal, 5
COA7 Spinocerebellar ataxia,
autosomal recessive, with axonal neuropathy 3
C9orf72 Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
COQ2 Coenzyme Q10 deficiency, primary, 1
COQ4 Coenzyme Q10 deficiency, primary, 7
COQ6 Coenzyme Q10 deficiency, primary, 6
COQ7 Coenzyme Q10 deficiency, primary, 8
COQ9 Coenzyme Q10 deficiency, primary, 5
COQ8A Coenzyme Q10 deficiency, primary, 4
CPLANE1 Orofaciodigital syndrome VI; Joubert syndrome 17
CWF19L1 Spinocerebellar ataxia, autosomal recessive 17
CYP27A1 Cerebrotendinous xanthomatosis
DARS2 Leukoencephalopathy with brain stem
and spinal cord involvement and lactate elevation
DEPDC5 Epilepsy, familial focal, with variable foci 1
DNMT1 Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant;
Neuropathy, hereditary sensory, type IE
EEF2 Spinocerebellar ataxia 26
ELOVL4 Spinocerebellar ataxia 34;
Ichthyosis, spastic quadriplegia, and mental retardation;
Stargardt disease 3
ELOVL5 Spinocerebellar ataxia 38
FAT2 Spinocerebellar ataxia 45
FGF14 Spinocerebellar ataxia 27
FLVCR1 Ataxia, posterior column, with retinitis pigmentosa
FXN Friedreich ataxia
GDAP2 Spinocerebellar ataxia, autosomal recessive 27
GOSR2 Epilepsy, progressive myoclonic 6
GRID2 Spinocerebellar ataxia, autosomal recessive 18
GRM1 Spinocerebellar ataxia 44; Spinocerebellar ataxia, autosomal recessive 13
GSS Glutathione synthetase deficiency;
Hemolytic anemia due to glutathione synthetase deficiency
GSX2 Diencephalic-mesencephalic junction dysplasia syndrome 2
IFRD1 Spinocerebellar ataxia 18
ITPR1 Spinocerebellar ataxia 15;
Spinocerebellar ataxia 29, congenital nonprogressive; Gillespie syndrome
KCNA1 Episodic ataxia 1/myokymia syndrome
KCNC3 Spinocerebellar ataxia 13
KCND3 Spinocerebellar ataxia 19; Brugada syndrome 9
KCNJ10 SESAME syndrome; Enlarged vestibular aqueduct, digenic
KCNMA1 Epilepsy, idiopathic generalized, susceptibility to, 16;
Cerebellar atrophy, developmental delay, and seizures;
Liang-Wang syndrome; Paroxysmal nonkinesigenic dyskinesia, 3,
with or without generalized epilepsy
KCNQ2 Myokymia; Seizures, benign neonatal, 1;
Epileptic encephalopathy, early infantile, 7
KIF1C Spastic ataxia 2
LAMA1 Poretti-Boltshauser syndrome
MAN2B1 Mannosidosis, alpha-, types I and II
MARS2 Spastic ataxia 3;
Combined oxidative phosphorylation deficiency 25
MME Spinocerebellar ataxia 43;
Charcot-Marie-Tooth disease, axonal, type 2T
MECR Dystonia, childhood-onset,
with optic atrophy and basal ganglia abnormalities
MTCL1 Early-onset ataxia
MTPAP Spastic ataxia 4
NKX6-2 Spastic ataxia 8, autosomal recessive,
with hypomyelinating leukodystrophy
NOP56 Spinocerebellar ataxia 36
NPC1 Niemann-Pick disease, type C1
NPC2 Niemann-pick disease, type C2
OFD1 Joubert syndrome 10; Orofaciodigital syndrome I;
Simpson-Golabi-Behmel syndrome, type 2
OPHN1 Mental retardation, X-linked,
with cerebellar hypoplasia and distinctive facial appearance
PAX6 Cerebellar ataxia, and intellectual disability
PCDH12 Diencephalic-mesencephalic junction dysplasia syndrome 1
PDSS1 Coenzyme Q10 deficiency, primary, 2
PDSS2 Coenzyme Q10 deficiency, primary, 3
PDYN Spinocerebellar ataxia 23
PEX7 Peroxisome biogenesis disorder 9B; Rhizomelic chondrodysplasia punctata, type 1
PHYH Refsum disease
PIK3R5 Ataxia-oculomotor apraxia 3
PLD3 Spinocerebellar ataxia 46
PMPCA Spinocerebellar ataxia, autosomal recessive 2
PNKD Paroxysmal nonkinesigenic dyskinesia 1
PNKP Ataxia-oculomotor apraxia 4;
Microcephaly, seizures, and developmental delay
PNPLA6 Spastic paraplegia 39, autosomal recessive;
Oliver-McFarlane syndrome; Boucher-Neuhauser syndrome;
Laurence-Moon syndrome
POLG Mitochondrial DNA depletion syndrome 4A;
Mitochondrial DNA depletion syndrome 4B;
Mitochondrial recessive ataxia syndrome;
Progressive external ophthalmoplegia, autosomal dominant 1;
Progressive external ophthalmoplegia, autosomal recessive 1
POLR3A Leukodystrophy, hypomyelinating, 7,
with or without oligodontia and/or hypogonadotropic hypogonadism;
Wiedemann-Rautenstrauch syndrome
POLR3B Leukodystrophy, hypomyelinating, 8,
with or without oligodontia and/or hypogonadotropic hypogonadism
PRKCG Spinocerebellar ataxia 14
PRRT2 Convulsions, familial infantile, with paroxysmal choreoathetosis;
Episodic kinesigenic dyskinesia 1; Seizures, benign familial infantile, 2
PUM1 Spinocerebellar ataxia 47
RUBCN Spinocerebellar ataxia, autosomal recessive 15
PTF1A Pancreatic agenesis 2; Pancreatic and cerebellar agenesis
RNF216 Cerebellar ataxia and hypogonadotropic hypogonadism
SACS Spastic ataxia, Charlevoix-Saguenay type
SAMD9L Ataxia-pancytopenia syndrome
SCN1A Migraine, familial hemiplegic, 3
SCN2A Seizures, benign familial infantile, 3;
Epileptic encephalopathy, early infantile, 11; Episodic ataxia, type 9
SCN8A Myoclonus, familial, 2;
Cognitive impairment with or without cerebellar ataxia;
Epileptic encephalopathy, early infantile, 13; Seizures, benign familial infantile, 5
SCYL1 Spinocerebellar ataxia, autosomal recessive 21
SERAC1 3-methylglutaconic aciduria with deafness, encephalopathy,
and Leigh-like syndrome
SETX Spinocerebellar ataxia with axonal neuropathy 2
(ataxia-oculomotor apraxia 2); Amyotrophic lateral sclerosis 4, juvenile
SIL1 Marinesco-Sjogren syndrome
SLC1A3 Episodic ataxia, type 6
SLC16A2 Allan-Herndon-Dudley syndrome
SLC2A1 Dystonia 9; GLUT1 deficiency syndrome 1, infantile onset, severe;
GLUT1 deficiency syndrome 2, childhood onset;
Stomatin-deficient cryohydrocytosis with neurologic defects;
Epilepsy, idiopathic generalized, susceptibility to, 12
SLC25A46 Neuropathy, hereditary motor and sensory, type VIB
SLC9A1 Lichtenstein-Knorr syndrome
SLC9A6 Mental retardation, X-linked syndromic, Christianson type
SLC52A2 Brown-Vialetto-Van Laere syndrome 2
SNX14 Spinocerebellar ataxia, autosomal recessive 20
SPG7 Spastic paraplegia 7
SPTBN2 Spinocerebellar ataxia 5;
Spinocerebellar ataxia, autosomal recessive 14
SQSTM1 Myopathy, distal, with rimmed vacuoles;
Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset;
Paget disease of bone 3; Frontotemporal dementia and/or amyotrophic lateral sclerosis 3
STUB1 Spinocerebellar ataxia, autosomal recessive 16
SYNE1 Spinocerebellar ataxia, autosomal recessive 8;
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
SYT14 Spinocerebellar ataxia, autosomal recessive 11
TTBK2 Spinocerebellar ataxia 11
TDP1 Spinocerebellar ataxia, autosomal recessive with axonal neuropathy
TDP2 Spinocerebellar ataxia, autosomal recessive 23
TGM6 Spinocerebellar ataxia 35
THG1L Spinocerebellar ataxia, autosomal recessive 28
TMEM231 Joubert syndrome 20; Meckel syndrome 11
TMEM240 Spinocerebellar ataxia 21
TPP1 Spinocerebellar ataxia, autosomal recessive 7;
Ceroid lipofuscinosis, neuronal, 2
TRPC3 Spinocerebellar ataxia 41
TSFM Combined oxidative phosphorylation deficiency 3
TTC19 Mitochondrial complex III deficiency, nuclear type 2
TTPA Ataxia with isolated vitamin E deficiency
TUBB4A Dystonia 4, torsion, autosomal dominant;
Leukodystrophy, hypomyelinating, 6
TWNK Perrault syndrome 5; Mitochondrial DNA depletion syndrome 7;
Progressive external ophthalmoplegia
with mitochondrial DNA deletions, autosomal dominant 3
TXN2 Combined oxidative phosphorylation deficiency 29
UBA5 Spinocerebellar ataxia, autosomal recessive 24;
Epileptic encephalopathy, early infantile, 44
UBR4 Episodic ataxia, type 8
VAMP1 Myasthenic syndrome, congenital, 25; Spastic ataxia 1
VLDLR Cerebellar hypoplasia and mental retardation with
or without quadrupedal locomotion 1
VPS13D Spinocerebellar ataxia, autosomal recessive 4
VWA3B Spinocerebellar ataxia, autosomal recessive 22
WDR73 Galloway-Mowat syndrome 1 (spinocerebellar ataxia, autosomal recessive 5)
WDR81 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2
WFS1 Wolfram syndrome 1; Wolfram-like syndrome, autosomal dominant;
Deafness, autosomal dominant 6/14/38
WWOX Spinocerebellar ataxia, autosomal recessive 12;
Epileptic encephalopathy, early infantile, 28
XRCC1 Spinocerebellar ataxia, autosomal recessive 26

List of diseases covered by Glycogen Storage Disease NGS panel

Published 18/06/2018

List of diseases covered by
Glycogen Storage Disease NGS panel

Gene Condition
AGL Glycogen storage disease IIIa
ALDOA Glycogen storage disease XII
ENO3 Glycogen storage disease XIII
FBP1 Fructose-1,6-bisphosphatase deficiency
G6PC Glycogen storage disease Ia
GAA Glycogen storage disease II
GBE1 Glycogen storage disease IV; Polyglucosan body disease, adult form
GYG1 Polyglucosan body myopathy 2; Glycogen storage disease XV
GYS1 Glycogen storage disease 0, muscle
GYS2 Glycogen storage disease 0, liver
LAMP2 Danon disease
LDHA Glycogen storage disease XI
PFKM Glycogen storage disease VII
PGAM2 Glycogen storage disease X
PGK1 Phosphoglycerate kinase 1 deficiency
PGM1 Congenital disorder of glycosylation, type It
PHKA1 Muscle glycogenosis
PHKA2 Glycogen storage disease, type IXa1
PHKB Phosphorylase kinase deficiency of liver and muscle,
autosomal recessive
PHKG2 Glycogen storage disease IXc
PRKAG2 Glycogen storage disease of heart, lethal congenital;
Cardiomyopathy, hypertrophic 6; Wolff-Parkinson-White syndrome
PYGL Glycogen storage disease VI
PYGM McArdle disease
SLC2A2 Fanconi-Bickel syndrome; Diabetes mellitus, noninsulin-dependent
SLC37A4 Glycogen storage disease Ib; Glycogen storage disease Ic

List of diseases covered by Fatty Acid Oxidation Disorder NGS panel

Published 18/06/2018

List of diseases covered by
Fatty Acid Oxidation Disorder NGS panel

Gene Condition
ACAD9 Mitochondrial complex I deficiency due to ACAD9 deficiency
ACADM Acyl-CoA dehydrogenase, medium chain, deficiency of
ACADS Acyl-CoA dehydrogenase, short-chain, deficiency of
ACADVL VLCAD deficiency
CPT1A CPT deficiency, hepatic, type IA
CPT2 CPT II deficiency, infantile; CPT II deficiency, lethal neonatal;
CPT II deficiency, myopathic, stress-induced
ETFA Glutaric acidemia IIA
ETFB Glutaric acidemia IIB
ETFDH Glutaric acidemia IIC
GLUD1 Hyperinsulinism-hyperammonemia syndrome
HADH 3-hydroxyacyl-CoA dehydrogenase deficiency
HADHA Fatty liver, acute, of pregnancy; Trifunctional protein deficiency
HADHB Trifunctional protein deficiency
HMGCL HMG-CoA lyase deficiency
HMGCS2 HMG-CoA synthase-2 deficiency
HSD17B10 HSD10 mitochondrial disease
LPIN1 Myoglobinuria, acute recurrent, autosomal recessive
PPARG Carotid intimal medial thickness 1;
Lipodystrophy, familial partial, type 3; Obesity, severe
SLC22A5 Carnitine deficiency, systemic primary
SLC25A20 Carnitine-acylcarnitine translocase deficiency
TAZ Barth syndrome

List of diseases covered by Skeletal Dysplasia NGS panel

Published 13/06/2018

List of diseases covered by
Skeletal Dysplasia NGS panel

Gene Condition
AGPS Rhizomelic chondrodysplasia punctata, type 3
ALPL Hypophosphatasia, adult; Hypophosphatasia, childhood;
Hypophosphatasia, infantile; Odontohypophosphatasia
ARSL Chondrodysplasia punctata, X-linked recessive
CANT1 Desbuquois dysplasia 1; Epiphyseal dysplasia, multiple, 7
CCN6 Progressive pseudorheumatoid dysplasia
CHST3 Spondyloepiphyseal dysplasia with congenital joint dislocations
CLCN7 Hypopigmentation, organomegaly,
and delayed myelination and development;
Osteopetrosis, autosomal dominant 2;
Osteopetrosis, autosomal recessive 4
COL1A1 Ehlers-Danlos syndrome, arthrochalasia type, 1;
Caffey disease; Osteogenesis imperfecta, type I;
Osteogenesis imperfecta, type II;
Osteogenesis imperfecta, type III; Osteogenesis imperfecta, type IV
COL1A2 Ehlers-Danlos syndrome, arthrochalasia type, 2;
Ehlers-Danlos syndrome, cardiac valvular type;
Osteogenesis imperfecta, type II;
Osteogenesis imperfecta, type III; Osteogenesis imperfecta, type IV
COL11A1 Stickler syndrome, type II;
Fibrochondrogenesis 1; Marshall syndrome
COL11A2 Deafness, autosomal dominant 13;
Deafness, autosomal recessive 53; Fibrochondrogenesis 2;
Otospondylomegaepiphyseal dysplasia, autosomal dominant;
Otospondylomegaepiphyseal dysplasia, autosomal recessive
COL2A1 Stickler syndrome type 1;
Stickler sydrome, type I, nonsyndromic ocular;
Achondrogenesis, type II or hypochondrogenesis;
Avascular necrosis of the femoral head; Czech dysplasia;
Epiphyseal dysplasia, multiple, with myopia and deafness;
Kniest dysplasia; Legg-Calve-Perthes disease;
Legg-Calve-Perthes disease;
Osteoarthritis with mild chondrodysplasia;
Platyspondylic skeletal dysplasia, Torrance type; SED congenita;
SMED Strudwick type; Spondyloepiphyseal dysplasia, Stanescu type;
Spondyloperipheral dysplasia
COL9A1 Stickler syndrome, type IV; Epiphyseal dysplasia, multiple, 6
COL9A2 Stickler syndrome, type V; Epiphyseal dysplasia, multiple, 2
COL9A3 Epiphyseal dysplasia, multiple, 3, with or without myopathy;
Intervertebral disc disease, susceptibility to
COMP Epiphyseal dysplasia, multiple, 1; Pseudoachondroplasia
CRTAP Osteogenesis imperfecta, type VII
DDR2 Spondylometaepiphyseal dysplasia, short limb-hand type;
Warburg-Cinotti syndrome
DHCR24 Desmosterolosis
DVL1 Robinow syndrome, autosomal dominant 2
DYM Dyggve-Melchior-Clausen disease; Smith-McCort dysplasia
DYNC2H1 Short-rib thoracic dysplasia 3 with or without polydactyly
DYNC2I2 Short-rib thoracic dysplasia 11 with or without polydactyly
EBP Chondrodysplasia punctata, X-linked dominant; MEND syndrome
ESCO2 Roberts syndrome; SC phocomelia syndrome
EVC Weyers acrofacial dysostosis; Ellis-van Creveld syndrome
EVC2 Weyers acrofacial dysostosis; Ellis-van Creveld syndrome
FAM111A Gracile bone dysplasia; Kenny-Caffey syndrome, type 2
FAM20C Raine syndrome
FGFR1 Pfeiffer syndrome; Encephalocraniocutaneous lipomatosis;
Hartsfield syndrome; Hypogonadotropic hypogonadism 2
with or without anosmia; Jackson-Weiss syndrome;
Osteoglophonic dysplasia; Trigonocephaly 1
FGFR2 Apert syndrome; Beare-Stevenson cutis gyrata syndrome;
Antley-Bixler syndrome without genital anomalies or
disordered steroidogenesis; Bent bone dysplasia syndrome;
Craniofacial-skeletal-dermatologic dysplasia; Crouzon syndrome;
Jackson-Weiss syndrome; LADD syndrome;
Pfeiffer syndrome; Saethre-Chotzen syndrome;
Scaphocephaly, maxillary retrusion, and mental retardation
FGFR3 CATSHL syndrome; Achondroplasia;
Crouzon syndrome with acanthosis nigricans;
Hypochondroplasia; LADD syndrome; Muenke syndrome;
SADDAN; Thanatophoric dysplasia, type I;
Thanatophoric dysplasia, type II
FKBP10 Osteogenesis imperfecta, type XI; Bruck syndrome 1
FLNA FG syndrome 2; Cardiac valvular dysplasia, X-linked;
Congenital short bowel syndrome; Frontometaphyseal dysplasia 1;
Heterotopia, periventricular; Melnick-Needles syndrome;
Otopalatodigital syndrome, type I;
Otopalatodigital syndrome, type II;
Terminal osseous dysplasia
FLNB Atelosteogenesis, type I; Atelosteogenesis, type I;
Boomerang dysplasia; Larsen syndrome;
Spondylocarpotarsal synostosis syndrome
GNPAT Rhizomelic chondrodysplasia punctata, type 2
GPC6 Omodysplasia 1
HSPG2 Dyssegmental dysplasia, Silverman-Handmaker type;
Schwartz-Jampel syndrome, type 1
IDUA Mucopolysaccharidosis Ih (Hurler syndrome)
IFITM5 Osteogenesis imperfecta, type V
IFT80 Short-rib thoracic dysplasia 2 with or without polydactyly
IL11RA Craniosynostosis and dental anomalies
INPPL1 Opsismodysplasia
LBR Reynolds syndrome; Greenberg skeletal dysplasia;
Pelger-Huet anomaly; Pelger-Huet anomaly with mild skeletal anomalies
LIFR Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome
LRP5 Exudative vitreoretinopathy 4;
Hyperostosis, endosteal; Osteopetrosis, autosomal dominant 1;
Osteoporosis-pseudoglioma syndrome;
Polycystic liver disease 4 with or without kidney cysts;
van Buchem disease, type 2
MATN3 Spondyloepimetaphyseal dysplasia, Borochowitz Cormier-Daire type;
Osteoarthritis susceptibility 2; Epiphyseal dysplasia, multiple, 5
MMP13 Spondyloepimetaphyseal dysplasia, Missouri type;
Metaphyseal anadysplasia 1; Metaphyseal dysplasia, Spahr type
MMP9 Metaphyseal anadysplasia 2
MSX2 Craniosynostosis 2; Parietal foramina 1;
Parietal foramina with cleidocranial dysplasia
NEK1 Amyotrophic lateral sclerosis, susceptibility to, 24;
Short-rib thoracic dysplasia 6 with or without polydactyly
NOTCH2 Alagille syndrome 2; Hajdu-Cheney syndrome
NPR2 Acromesomelic dysplasia, Maroteaux type;
Epiphyseal chondrodysplasia, Miura type;
Short stature with nonspecific skeletal abnormalities
NSDHL CHILD syndrome; CK syndrome
PEX7 Peroxisome biogenesis disorder 9B;
Rhizomelic chondrodysplasia punctata, type 1
P3H1 Osteogenesis imperfecta, type VIII
PLOD2 Bruck syndrome 2
PPIB Osteogenesis imperfecta, type IX
PTDSS1 Lenz-Majewski hyperostotic dwarfism
PTH1R Chondrodysplasia, Blomstrand type; Eiken syndrome;
Failure of tooth eruption, primary; Metaphyseal chondrodysplasia,
Murk Jansen type
RECQL4 Baller-Gerold syndrome; RAPADILINO syndrome;
Rothmund-Thomson syndrome
ROR2 Robinow syndrome, autosomal recessive; Brachydactyly, type B1
SERPINH1 Osteogenesis imperfecta, type X;
Preterm premature rupture of the membranes, susceptibility to
SHOX Langer mesomelic dysplasia; Leri-Weill dyschondrosteosis;
Short stature, idiopathic familial
SLC26A2 Achondrogenesis Ib; Atelosteogenesis, type II;
De la Chapelle dysplasia; Diastrophic dysplasia;
Epiphyseal dysplasia, multiple, 4
SLC29A3 Histiocytosis-lymphadenopathy plus syndrome
SLC35D1 Schneckenbecken dysplasia
SOX9 Campomelic dysplasia
TBX5 Holt-Oram syndrome
TCIRG1 Osteopetrosis, autosomal recessive 1
TMEM38B Osteogenesis imperfecta, type XIV
TRIP11 Achondrogenesis, type IA
TRPV4 Avascular necrosis of femoral head, primary, 2;
Sodium serum level QTL 1; Brachyolmia type 3;
Digital arthropathy-brachydactyly, familial;
Hereditary motor and sensory neuropathy, type IIc;
Metatropic dysplasia;
Neuronopathy, distal hereditary motor, type VIII;
Parastremmatic dwarfism;
Scapuloperoneal spinal muscular atrophy;
SED, Maroteaux type;
Spondylometaphyseal dysplasia, Kozlowski type
TWIST1 Craniosynostosis 1; Robinow-Sorauf syndrome;
Saethre-Chotzen syndrome with or without eyelid anomalies;
Sweeney-Cox syndrome
WDR19 Cranioectodermal dysplasia 4;
Short-rib thoracic dysplasia 5 with or without polydactyly;
Nephronophthisis 13; Senior-Loken syndrome 8
WDR35 Cranioectodermal dysplasia 2;
Short-rib thoracic dysplasia 7 with or without polydactyly
WNT1 Osteogenesis imperfecta, type XV;
Osteoporosis, early-onset, susceptibility to
WNT5A Robinow syndrome, autosomal dominant 1
XYLT1 Pseudoxanthoma elasticum, modifier of severity of;
Desbuquois dysplasia 2

List of diseases covered by Skeletal Ciliopathies NGS panel

Published 13/06/2018

List of diseases covered by
Skeletal Ciliopathies NGS panel

Gene Condition
CEP120 Joubert syndrome 31;
Short-rib thoracic dysplasia 13 with or without polydactyly
COMP Pseudoachondroplasia; Epiphyseal dysplasia, multiple, 1
CSPP1 Joubert syndrome 21
DYNC2H1 Short-rib thoracic dysplasia 3 with or without polydactyly
DYNC2LI1 Short-rib thoracic dysplasia 15 with polydactyly
EVC Ellis-van Creveld syndrome; Weyers acrofacial dysostosis
EVC2 Ellis-van Creveld syndrome; Weyers acrofacial dysostosis
FGFR3 CATSHL syndrome; Achondroplasia;
Crouzon syndrome with acanthosis nigricans;
Hypochondroplasia; LADD syndrome; Muenke syndrome;
SADDAN; Thanatophoric dysplasia, type I;
Thanatophoric dysplasia, type II
IFT43 Short-rib thoracic dysplasia 18 with polydactyly;
Cranioectodermal dysplasia 3
IFT122 Cranioectodermal dysplasia 1
IFT52 Short-rib thoracic dysplasia 16 with or without polydactyly
IFT80 Short-rib thoracic dysplasia 2 with or without polydactyly
IFT140 Short-rib thoracic dysplasia 9 with or without polydactyly
IFT172 Short-rib thoracic dysplasia 10 with or without polydactyly
KIAA0586 Joubert syndrome 23;
Short-rib thoracic dysplasia 14 with polydactyly
NEK1 Short-rib thoracic dysplasia 6 with or without polydactyly
TCTEX1D2 Short-rib thoracic dysplasia 17 with or without polydactyly
TCTN3 Joubert syndrome 18; Orofaciodigital syndrome IV
TTC21B Short-rib thoracic dysplasia 4 with or without polydactyly;
Nephronophthisis 12
WDR19 Senior-Loken syndrome 8; Nephronophthisis 13;
Short-rib thoracic dysplasia 5 with or without polydactyly;
Cranioectodermal dysplasia 4
WDR34 Short-rib thoracic dysplasia 11 with or without polydactyly
WDR35 Short-rib thoracic dysplasia 7 with or without polydactyly;
Cranioectodermal dysplasia 2
WDR60 Short-rib thoracic dysplasia 8 with or without polydactyly

List of diseases covered by Noonan Spectrum Disorders/Rasopathies NGS panel

Published 13/06/2018

List of diseases covered by
Noonan Spectrum Disorders/Rasopathies NGS panel

Gene Condition
ACTB Baraitser-Winter syndrome 1,
Dystonia, juvenile-onset
ACTG1 Baraitser-Winter syndrome 2;
Deafness, autosomal dominant 20/26
A2ML1 Otitis media, susceptibility to
BRAF Noonan syndrome 7; LEOPARD syndrome 3;
Cardiofaciocutaneous syndrome
CBL Noonan syndrome-like disorder with or without juvenile
myelomonocytic leukemia
CHD7 CHARGE syndrome;
Hypogonadotropic hypogonadism 5 with or without anosmia
DHCR7 Smith-Lemli-Opitz syndrome
ELN Supravalvar aortic stenosis; Cutis laxa, autosomal dominant
EPHB4 Capillary malformation-arteriovenous malformation 2;
Lymphatic malformation 7
FGD1 Aarskog-Scott syndrome
HRAS Costello syndrome
JAG1 Alagille syndrome 1; Tetralogy of Fallot;
Deafness, congenital heart defects, and posterior embryotoxon
KAT6B Genitopatellar syndrome; SBBYSS syndrome
KDM6A Kabuki syndrome 2
KMT2D Kabuki syndrome 1
KRAS Noonan syndrome 3; Cardiofaciocutaneous syndrome 2
LZTR1 Noonan syndrome 10
MAP2K1 Cardiofaciocutaneous syndrome 3
MAP2K2 Cardiofaciocutaneous syndrome 4
MRAS Noonan syndrome 11
NCF1 Chronic granulomatous disease 1, autosomal recessive
NF1 Neurofibromatosis-Noonan syndrome
NOTCH2 Hajdu-Cheney syndrome; Alagille syndrome 2
NRAS Noonan syndrome 6
PPP1CB Noonan syndrome-like disorder
with loose anagen hair 2
PTPN11 Noonan syndrome 1; LEOPARD syndrome 1; Metachondromatosis
RAF1 Noonan syndrome 5; LEOPARD syndrome 2;
Cardiomyopathy, dilated, 1NN
RAI1 Smith-Magenis syndrome
RASA1 Capillary malformation-arteriovenous malformation 1
RASA2 Noonan syndrome-like phenotype
RIT1 Noonan syndrome 8
RRAS Noonan syndrome-like phenotype; Noonan syndrome 12
SHOC2 Noonan-like syndrome with loose anagen hair
SOS1 Noonan syndrome 4
SOS2 Noonan syndrome 9
SPRED1 Legius syndrome
TBX1 Conotruncal anomaly face syndrome; DiGeorge syndrome;
Tetralogy of Fallot; Velocardiofacial syndrome

List of diseases covered by Microcephaly NGS panel

Published 13/06/2018

List of diseases covered by Microcephaly NGS panel

Gene Condition
ANKLE2 Microcephaly 16, primary
AP4M1 Spastic paraplegia 50, autosomal recessive
ASNS Asparagine synthetase deficiency
ASPM Microcephaly 5, primary, autosomal recessive
ATM Ataxia-telangiectasia
ATR Seckel syndrome 1;
Cutaneous telangiectasia and cancer syndrome,
familial
CASK Mental retardation and microcephaly
with pontine and cerebellar hypoplasia;
Mental retardation, with or without nystagmus
CDC45 Meier-Gorlin syndrome 7
CDC6 Meier-Gorlin syndrome 5
CDK6 Microcephaly 12, primary
CDK5RAP2 Microcephaly 3, primary, autosomal recessive
CDT1 Meier-Gorlin syndrome 4
CENPE Microcephaly 13, primary
CENPJ Microcephaly 6, primary, autosomal recessive; Seckel syndrome 4
CEP63 Seckel syndrome 6
CEP135 Microcephaly 8, primary, autosomal recessive
CEP152 Microcephaly 9, primary, autosomal recessive; Seckel syndrome 5
CHD7 CHARGE syndrome;
Hypogonadotropic hypogonadism 5 with or without anosmia
CIT Microcephaly 17, primary
COPB1 Microcephaly 19, primary
CREBBP Rubinstein-Taybi syndrome 1; Menke-Hennekam syndrome 1
CTNNA2 Cortical dysplasia, complex, with other brain malformations 9
DHCR7 Smith-Lemli-Opitz syndrome
DHTKD1 2-aminoadipic 2-oxoadipic aciduria
DNA2 Seckel syndrome 8; Progressive external ophthalmoplegia
with mitochondrial DNA deletions, autosomal dominant 6
DONSON Microcephaly-micromelia syndrome;
Microcephaly, short stature, and limb abnormalities
DYRK1A Mental retardation, 7
EFTUD2 Mandibulofacial dysostosis, Guion-Almeida type
EP300 Rubinstein-Taybi syndrome 2; Menke-Hennekam syndrome 2
ERCC6 Cerebrooculofacioskeletal syndrome 1;
Cockayne syndrome, type B; De Sanctis-Cacchione syndrome
EXOSC3 Pontocerebellar hypoplasia, type 1B
FBXO11 Intellectual developmental disorder
with dysmorphic facies and behavioral abnormalities
GMNN Meier-Gorlin syndrome 6
GSX2 Diencephalic-mesencephalic junction dysplasia syndrome 2
HDAC8 Cornelia de Lange syndrome 5;
IER3IP1 Microcephaly, epilepsy, and diabetes syndrome
KIF11 Microcephaly with or without chorioretinopathy, lymphedema,
or mental retardation
KIF14 Microcephaly 20, primary
KIF2A Cortical dysplasia, complex, with other brain malformations 3
KIFBP Goldberg-Shprintzen megacolon syndrome
KIF5C Cortical dysplasia, complex, with other brain malformations 2
KMT2A Wiedemann-Steiner syndrome
KNL1 Microcephaly 4, primary, autosomal recessive
LAGE3 Galloway-Mowat syndrome 2
LIG4 LIG4 syndrome
MCM5 Meier-Gorlin syndrome 8
MCPH1 Microcephaly 1, primary, autosomal recessive
MFSD2A Neurodevelopmental disorder with progressive microcephaly,
spasticity, and brain imaging abnormalities
NACC1 Neurodevelopmental disorder with epilepsy, cataracts,
feeding difficulties, and delayed brain myelination
NBN Nijmegen breakage syndrome; Leukemia, acute lymphoblastic;
Aplastic anemia
NCAPD2 Microcephaly 21, primary
NCAPD3 Microcephaly 22, primary
NCAPH Microcephaly 23, primary
NDE1 Microhydranencephaly; Lissencephaly 4 (with microcephaly)
NHEJ1 Severe combined immunodeficiency with microcephaly,
growth retardation, and sensitivity to ionizing radiation
NIN Seckel syndrome 7
NSMCE2 Seckel syndrome 10
NUP107 Galloway-Mowat syndrome 7
NUP133 Galloway-Mowat syndrome 8
NUP37 Microcephaly 24, primary
ORC1 Meier-Gorlin syndrome 1
ORC4 Meier-Gorlin syndrome 2
ORC6 Meier-Gorlin syndrome 3
OSGEP Galloway-Mowat syndrome 3
PAFAH1B1 Lissencephaly 1
PCDH12 Diencephalic-mesencephalic junction dysplasia syndrome 1
PCNT Microcephalic osteodysplastic primordial dwarfism, type II
PHC1 Microcephaly 11, primary
PHGDH Neu-Laxova syndrome 1; Phosphoglycerate dehydrogenase deficiency
PLK4 Microcephaly and chorioretinopathy, 2
PNKP Microcephaly, seizures, and developmental delay;
Ataxia-oculomotor apraxia 4
POMT1 Muscular dystrophy-dystroglycanopathy
(congenital with brain and eye anomalies), type A, 1;
Muscular dystrophy-dystroglycanopathy
(congenital with mental retardation), type B, 1;
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1
PSAT1 Phosphoserine aminotransferase deficiency; Neu-Laxova syndrome 2
PSPH Phosphoserine phosphatase deficiency
RAD50 Nijmegen breakage syndrome-like disorder
RBBP8 Jawad syndrome; Seckel syndrome 2
RTTN Microcephaly, short stature, and polymicrogyria with seizures
SASS6 Microcephaly 14, primary
SLC25A19 Microcephaly, Amish type;
Thiamine metabolism dysfunction syndrome 4
SLC9A6 Mental retardation, X-linked syndromic, Christianson type
STAMBP Microcephaly-capillary malformation syndrome
STIL Microcephaly 7, primary, autosomal recessive
ZEB2 Mowat-Wilson syndrome
ZNF335 Microcephaly 10, primary
TP53RK Galloway-Mowat syndrome 4
TPRKB Galloway-Mowat syndrome 5
TRAIP Seckel syndrome 9
TRAPPC9 Mental retardation, 13
TRMT10A Microcephaly, short stature, and impaired glucose metabolism 1
TUBA8 Cortical dysplasia, complex, with other brain malformations 8
TUBB Cortical dysplasia, complex, with other brain malformations 6;
Symmetric circumferential skin creases, congenital, 1
TUBB3 Cortical dysplasia, complex, with other brain malformations 1;
Fibrosis of extraocular muscles, congenital, 3A
TUBB2A Cortical dysplasia, complex, with other brain malformations 5
TUBB2B Cortical dysplasia, complex, with other brain malformations 7
TUBG1 Cortical dysplasia, complex, with other brain malformations 4
TUBGCP4 Microcephaly and chorioretinopathy, 3
TUBGCP6 Microcephaly and chorioretinopathy, autosomal recessive, 1
WDFY3 Microcephaly 18, primary
WDR4 Galloway-Mowat syndrome 6
WDR62 Microcephaly 2, primary, autosomal recessive,
with or without cortical malformations
WDR73 Galloway-Mowat syndrome 1
(spinocerebellar ataxia, autosomal recessive 5)
XRCC4 Short stature, microcephaly, and endocrine dysfunction

List of diseases covered by Brain malformations NGS panel

Published 12/06/2018

List of diseases covered by
Brain malformations NGS panel

Gene Condition
ACTB Baraitser-Winter syndrome 1; Dystonia, juvenile-onset
ACTG1 Baraitser-Winter syndrome 2
ADGRG1 Polymicrogyria, bilateral frontoparietal;
Polymicrogyria, bilateral perisylvian
AHI1 Joubert syndrome 3
AKT1 Cowden syndrome 6
AKT3 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
AMPD2 Pontocerebellar hypoplasia, type 9; Spastic paraplegia 63
AMT Glycine encephalopathy
ANKLE2 Microcephaly 16, primary, autosomal recessive
APC2 Cortical dysplasia, complex, with other brain malformations 10;
Sotos syndrome 3
AP4B1 Spastic paraplegia 47
AP4E1 Spastic paraplegia 51; Stuttering, familial persistent, 1
AP4M1 Spastic paraplegia 50, autosomal recessive
AP4S1 Spastic paraplegia 52, autosomal recessive
ARFGEF2 Periventricular heterotopia with microcephaly
ARL13B Joubert syndrome 8
ARX Epileptic encephalopathy, early infantile, 1; Lissencephaly, X-linked 2;
Mental retardation, X-linked 29 and others; Partington syndrome;
Proud syndrome
ASNS Asparagine synthetase deficiency
ASPM Microcephaly 5, primary, autosomal recessive
ATP6V0A2 Cutis laxa, autosomal recessive, type IIA; Wrinkly skin syndrome
ATR Seckel syndrome 1; Cutaneous telangiectasia and cancer syndrome,
familial
ATRX Mental retardation-hypotonic facies syndrome, X-linked;
Alpha-thalassemia/mental retardation syndrome;
Alpha-thalassemia myelodysplasia syndrome, somatic
B9D1 Joubert syndrome 27; Meckel syndrome 9
B9D2 Joubert syndrome 34; Meckel syndrome 10
BICD2 Spinal muscular atrophy, lower extremity-predominant, 2A;
Spinal muscular atrophy, lower extremity-predominant, 2B
B3GALNT2 Muscular dystrophy-dystroglycanopathy
(congenital with brain and eye anomalies, type A, 11
B3GNT1 Muscular dystrophy-dystroglycanopathy
(congenital with brain and eye anomalies), type A, 13
CASK Mental retardation, with or without nystagmus;
Mental retardation and microcephaly
with pontine and cerebellar hypoplasia
C2CD3 Orofaciodigital syndrome XIV
CC2D2A COACH syndrome; Joubert syndrome 9; Meckel syndrome 6
CCDC22 Ritscher-Schinzel syndrome 2
CCND2 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus
syndrome 3
CDC45 Meier-Gorlin syndrome 7
CDC6 Meier-Gorlin syndrome 5
CDK6 Microcephaly 12, primary
CDK5RAP2 Microcephaly 3, primary, autosomal recessive
CDON Holoprosencephaly 11
CDT1 Meier-Gorlin syndrome 4
CENPE Microcephaly 13, primary
CENPF Stromme syndrome
CENPJ Microcephaly 6, primary, autosomal recessive; Seckel syndrome 4
CEP120 Joubert syndrome 31;
Short-rib thoracic dysplasia 13 with or without polydactyly
CEP135 Microcephaly 8, primary, autosomal recessive
CEP290 Senior-Loken syndrome 6; Meckel syndrome 4; Joubert syndrome 5
CEP152 Microcephaly 9, primary, autosomal recessive; Seckel syndrome 5
CEP63 Seckel syndrome 6
CEP41 Joubert syndrome 15
CHD7 CHARGE syndrome; Hypogonadotropic hypogonadism 5 with or without anosmia
CHMP1A Pontocerebellar hypoplasia, type 8
CIT Microcephaly 17, primary
CLP1 Pontocerebellar hypoplasia, type 10
COL18A1 Knobloch syndrome, type 1
COL3A1 Ehlers-Danlos syndrome, vascular type;
Polymicrogyria with or without vascular-type EDS
COPB1 Microcephaly 19, primary
C5orf42 Orofaciodigital syndrome VI; Joubert syndrome 17
CREBBP Rubinstein-Taybi syndrome 1
CSPP1 Joubert syndrome 21
CTNNA2 Cortical dysplasia, complex, with other brain malformations 9
CUL4B Mental retardation, X-linked, syndromic 15 (Cabezas type)
DAG1 Muscular dystrophy-dystroglycanopathy
(congenital with brain and eye anomalies), type A, 9;
Muscular dystrophy-dystroglycanopathy
(congenital with brain and eye anomalies), type A, 9
DCX Lissencephaly, X-linked
DDX3X Intellectual developmental disorder, syndrome, Snijders Blok type
DHCR7 Smith-Lemli-Opitz syndrome
DHCR24 Desmosterolosis
DISP1 Chromosome 1q41-q42 deletion syndrome (Holoprosencephaly 10)
DLAT Pyruvate dehydrogenase E2 deficiency
DLD Dihydrolipoamide dehydrogenase deficiency
DLL1 Neurodevelopmental disorder with nonspecific brain abnormalities
and with or without seizures
DNA2 Seckel syndrome 8; Progressive external ophthalmoplegia
with mitochondrial DNA deletions, autosomal dominant 6
DYNC1H1 Mental retardation, autosomal dominant 13;
Charcot-Marie-Tooth disease, axonal, type 20;
Spinal muscular atrophy, lower extremity-predominant 1, AD
DYRK1A Mental retardation, 7
EML1 Band heterotopia
EOMES Bilateral perisylvian or diffuse polymicrogyria (brain finding)
EP300 Rubinstein-Taybi syndrome 2; Menke-Hennekam syndrome 2
ERCC6 Cerebrooculofacioskeletal syndrome 1; Cockayne syndrome, type B;
De Sanctis-Cacchione syndrome
ETFA Glutaric acidemia IIA
EFTUD2 Mandibulofacial dysostosis, Guion-Almeida type
ERMARD Periventricular nodular heterotopia 6
ETFB Glutaric acidemia IIB
ETFDH Glutaric acidemia IIC
EXOSC3 Pontocerebellar hypoplasia, type 1B
EXOSC8 Pontocerebellar hypoplasia, type 1C
EZH2 Weaver syndrome
FAT4 Van Maldergem syndrome 2;
Hennekam lymphangiectasia-lymphedema syndrome 2
FBXO11 Intellectual developmental disorder with dysmorphic facies and
behavioral abnormalities
FGF8 Hypogonadotropic hypogonadism 6 with or without anosmia
FGFR1 Hartsfield syndrome; Trigonocephaly 1;
Hypogonadotropic hypogonadism 2 with or without anosmia
FIG4 Charcot-Marie-Tooth disease, type 4J;
Amyotrophic lateral sclerosis 11; Yunis-Varon syndrome;
Polymicrogyria, bilateral temporooccipital
FKRP Muscular dystrophy-dystroglycanopathy
(congenital with brain and eye anomalies), type A, 5;
Muscular dystrophy-dystroglycanopathy
(congenital with or without mental retardation), type B, 5;
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5
FKTN Muscular dystrophy-dystroglycanopathy
(congenital with brain and eye anomalies), type A, 4;
Muscular dystrophy-dystroglycanopathy
(congenital without mental retardation), type B, 4;
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4;
Cardiomyopathy, dilated, 1X
FLNA FG syndrome 2; Cardiac valvular dysplasia, X-linked;
Congenital short bowel syndrome; Frontometaphyseal dysplasia 1;
Heterotopia, periventricular; Melnick-Needles syndrome;
Otopalatodigital syndrome, type I;
Otopalatodigital syndrome, type II;
Terminal osseous dysplasia
FOXP2 Speech-language disorder-1
GCDH Glutaricaciduria, type I
GCSH Glycine encephalopathy
GLDC Glycine encephalopathy
GMNN Meier-Gorlin syndrome 6
GMPPB Muscular dystrophy-dystroglycanopathy
(congenital with brain and eye anomalies), type A, 14;
Muscular dystrophy-dystroglycanopathy
(congenital with mental retardation), type B, 14;
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14
GPSM2 Chudley-McCullough syndrome
GRIN1 Neurodevelopmental disorder
with or without hyperkinetic movements and seizures;
Neurodevelopmental disorder with or without hyperkinetic movements and seizures
GRIN2B Epileptic encephalopathy, early infantile, 27;
Mental retardation, autosomal dominant 6
GSX2 Diencephalic-mesencephalic junction dysplasia syndrome 2
HDAC8 Cornelia de Lange syndrome 5
IER3IP1 Microcephaly, epilepsy, and diabetes syndrome
IFT172 Short-rib thoracic dysplasia 10 with or without polydactyly;
Retinitis pigmentosa 71
INPP5E Mental retardation, truncal obesity, retinal dystrophy, and micropenis;
Joubert syndrome 1
ISPD Muscular dystrophy-dystroglycanopathy
(congenital with brain and eye anomalies), type A, 7;
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7
KIF11 Microcephaly with or without chorioretinopathy,
lymphedema, or mental retardation
KIF14 Microcephaly 20, primary
KIF7 Joubert syndrome 12; Hydrolethalus syndrome 2;
Al-Gazali-Bakalinova syndrome
KIF2A Cortical dysplasia, complex, with other brain malformations 3
KIFBP Goldberg-Shprintzen megacolon syndrome
KIF1BP Goldberg-Shprintzen megacolon syndrome
KIF5C Cortical dysplasia, complex, with other brain malformations 2
KMT2A Wiedemann-Steiner syndrome
KMT2D Kabuki syndrome 1
KNL1 Microcephaly 4, primary, autosomal recessive
LAGE3 Galloway-Mowat syndrome 2
LAMA2 Muscular dystrophy, congenital merosin-deficient
LAMB1 Lissencephaly 5
LAMC3 Cortical malformations, occipital
LARGE1 Muscular dystrophy-dystroglycanopathy
(congenital with brain and eye anomalies), type A, 6;
Muscular dystrophy-dystroglycanopathy
(congenital with mental retardation), type B, 6
LGI1 Epilepsy, familial temporal lobe, 1
MCM5 Meier-Gorlin syndrome 8
MCPH1 Microcephaly 1, primary, autosomal recessive
MECP2 Encephalopathy, neonatal severe;
Mental retardation, X-linked syndromic, Lubs type;
Mental retardation, X-linked, syndromic 13; Rett syndrome
MFSD2A Neurodevelopmental disorder with progressive microcephaly,
spasticity, and brain imaging abnormalities
MKS1 Meckel syndrome 1; Joubert syndrome 28; Bardet-Biedl syndrome 13
MTOR Smith-Kingsmore syndrome
NACC1 Neurodevelopmental disorder with epilepsy, cataracts,
feeding difficulties, and delayed brain myelination
NBN Nijmegen breakage syndrome; Aplastic anemia;
Leukemia, acute lymphoblastic
NCAPD2 Microcephaly 21, primary
NCAPD3 Microcephaly 22, primary
NCAPH Microcephaly 23, primary
NDE1 Lissencephaly 4 (with microcephaly); Microhydranencephaly
NEDD4L Periventricular nodular heterotopia 7
NHEJ1 Severe combined immunodeficiency with microcephaly,
growth retardation, and sensitivity to ionizing radiation
NIN Seckel syndrome 7
NPHP1 Joubert syndrome 4; Nephronophthisis 1, juvenile;
Senior-Loken syndrome-1
NSMCE2 Seckel syndrome 10
NUP107 Galloway-Mowat syndrome 7
NUP133 Galloway-Mowat syndrome 8
NUP37 Microcephaly 24, primary
OCLN Pseudo-TORCH syndrome 1
OFD1 Joubert syndrome 10; Orofaciodigital syndrome I;
Simpson-Golabi-Behmel syndrome, type 2; Retinitis pigmentosa 23
OPHN1 Mental retardation, X-linked, with cerebellar hypoplasia and
distinctive facial appearance
ORC1 Meier-Gorlin syndrome 1
ORC4 Meier-Gorlin syndrome 2
ORC6 Meier-Gorlin syndrome 3
OSGEP Galloway-Mowat syndrome 3
PAFAH1B1 Lissencephaly 1
PCDH12 Diencephalic-mesencephalic junction dysplasia syndrome 1
PCNT Microcephalic osteodysplastic primordial dwarfism, type II
PDE6D Joubert syndrome 22
PDHA1 Pyruvate dehydrogenase E1-alpha deficiency
PDHB Pyruvate dehydrogenase E1-beta deficiency
PDHX Lacticacidemia due to PDX1 deficiency
PDP1 Pyruvate dehydrogenase phosphatase deficiency
PEX1 Heimler syndrome 1; Peroxisome biogenesis disorder 1A
(Zellweger); Peroxisome biogenesis disorder 1B (NALD/IRD)
PEX2 Peroxisome biogenesis disorder 5A (Zellweger);
Peroxisome biogenesis disorder 5B
PEX3 Peroxisome biogenesis disorder 10A (Zellweger);
Peroxisome biogenesis disorder 10B
PEX5 Peroxisome biogenesis disorder 2A (Zellweger);
Peroxisome biogenesis disorder 2B;
Rhizomelic chondrodysplasia punctata, type 5
PEX6 Heimler syndrome 2; Peroxisome biogenesis disorder 4A
(Zellweger); Peroxisome biogenesis disorder 4B
PEX10 Peroxisome biogenesis disorder 6A (Zellweger);
Peroxisome biogenesis disorder 6B
PEX11B Peroxisome biogenesis disorder 14B
PEX12 Peroxisome biogenesis disorder 3A (Zellweger);
Peroxisome biogenesis disorder 3B
PEX13 Peroxisome biogenesis disorder 11A (Zellweger);
Peroxisome biogenesis disorder 11B
PEX14 Peroxisome biogenesis disorder 13A (Zellweger)
PEX16 Peroxisome biogenesis disorder 8A (Zellweger);
Peroxisome biogenesis disorder 8B
PEX19 Peroxisome biogenesis disorder 12A (Zellweger)
PEX26 Peroxisome biogenesis disorder 7A (Zellweger);
Peroxisome biogenesis disorder 7B
PHC1 Microcephaly 11, primary
PHGDH Neu-Laxova syndrome 1; Phosphoglycerate dehydrogenase deficiency
PIK3CA Cowden syndrome 5
PIEZO2 Marden-Walker syndrome; Arthrogryposis, distal, type 3;
Arthrogryposis, distal, type 5;
Arthrogryposis, distal, with impaired proprioception and touch
PI4KA Polymicrogyria, perisylvian,
with cerebellar hypoplasia and arthrogryposis
PIK3R2 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus
syndrome 1
PLK4 Microcephaly and chorioretinopathy, 2
PMM2 Congenital disorder of glycosylation, type Ia
PNKP Ataxia-oculomotor apraxia 4;
Microcephaly, seizures, and developmental delay
POC1B Cone-rod dystrophy 20
POMGNT1 Muscular dystrophy-dystroglycanopathy, type A, 3;
Muscular dystrophy-dystroglycanopathy, type B, 3;
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3
POMGNT2 Muscular dystrophy-dystroglycanopathy
(congenital with brain and eye anomalies, type A, 8
POMK Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12;
Muscular dystrophy-dystroglycanopathy, type A, 12
POMT1 Muscular dystrophy-dystroglycanopathy, type A, 1;
Muscular dystrophy-dystroglycanopathy, type B, 1;
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1
POMT2 Muscular dystrophy-dystroglycanopathy, type A, 2;
Muscular dystrophy-dystroglycanopathy, type B, 2;
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2
PPP1R12A Genitourinary and/or/brain malformation syndrome
PQBP1 Renpenning syndrome
PSAT1 Phosphoserine aminotransferase deficiency; Neu-Laxova syndrome 2
PSPH Phosphoserine phosphatase deficiency
PTEN Cowden syndrome 1; Lhermitte-Duclos syndrome;
Macrocephaly/autism syndrome
RAB18 Warburg micro syndrome 3
RAB3GAP1 Warburg micro syndrome 1
RAB3GAP2 Martsolf syndrome; Warburg micro syndrome 2
RAD21 Mungan syndrome; Cornelia de Lange syndrome 4
RARS2 Pontocerebellar hypoplasia, type 6
RBBP8 Jawad syndrome; Seckel syndrome 2
RELN Lissencephaly 2 (Norman-Roberts type),
RPGRIP1L COACH syndrome; Joubert syndrome 7; Meckel syndrome 5
RTTN Microcephaly, short stature, and polymicrogyria with seizures
RXYLT1 Muscular dystrophy-dystroglycanopathy
(congenital with brain and eye anomalies), type A, 10
SASS6 Microcephaly 14, primary
SEC23B Cowden syndrome 7
SEPSECS Pontocerebellar hypoplasia type 2D
SHH Holoprosencephaly 3; Microphthalmia with coloboma 5;
Schizencephaly; Single median maxillary central incisor
SIX3 Holoprosencephaly 2; Schizencephaly
SLC12A6 Agenesis of the corpus callosum with peripheral neuropathy
SLC25A19 Microcephaly, Amish type;
Thiamine metabolism dysfunction syndrome 4
SLC25A46 Neuropathy, hereditary motor and sensory, type VIB
SLC9A6 Mental retardation, X-linked syndromic, Christianson type
SMC1A Cornelia de Lange syndrome 2;
Epileptic encephalopathy, early infantile, 85, with or without midline brain defects
SMC3 Cornelia de Lange syndrome 3
SNAP29 Cerebral dysgenesis, neuropathy, ichthyosis,
and palmoplantar keratoderma syndrome
SRD5A3 Congenital disorder of glycosylation, type Iq; Kahrizi syndrome
SRPX2 Rolandic epilepsy, mental retardation, and speech dyspraxia
STAG2 Holoprosencephaly 13; Mullegama-Klein-Martinez syndrome
STAMBP Microcephaly-capillary malformation syndrome
STIL Microcephaly 7, primary, autosomal recessive
TBC1D20 Warburg micro syndrome 4
TCF4 Pitt-Hopkins syndrome; Corneal dystrophy, Fuchs endothelial, 3
TCTN1 Joubert syndrome 13
TCTN2 Joubert syndrome 24; Meckel syndrome 8
TCTN3 Joubert syndrome 18; Orofaciodigital syndrome IV
TGIF1 Holoprosencephaly 4
TMEM231 Joubert syndrome 20; Meckel syndrome 11
TMEM237 Joubert syndrome 14
TMEM216 Joubert syndrome 2; Meckel syndrome 2
TMEM138 Joubert syndrome 16
TMEM67 Joubert syndrome 6; Meckel syndrome 3; COACH syndrome;
Nephronophthisis 11
TMEM5 Muscular dystrophy-dystroglycanopathy
(congenital with brain and eye anomalies), type A, 10
TP53RK Galloway-Mowat syndrome 4
TPRKB Galloway-Mowat syndrome 5
TRAIP Seckel syndrome 9
TSEN2 Pontocerebellar hypoplasia type 2B
TSEN34 Pontocerebellar hypoplasia type 2C
TSEN54 Pontocerebellar hypoplasia type 5;
Pontocerebellar hypoplasia type 2A;
Pontocerebellar hypoplasia type 4
TTC21B Nephronophthisis 12;
Short-rib thoracic dysplasia 4 with or without polydactyly
TUBA1A Lissencephaly 3
TUBA8 Cortical dysplasia, complex, with other brain malformations 8
TUBB Cortical dysplasia, complex, with other brain malformations 6;
Symmetric circumferential skin creases, congenital, 1
TUBB2A Cortical dysplasia, complex, with other brain malformations 5
TUBB2B Cortical dysplasia, complex, with other brain malformations 7
TUBB3 Cortical dysplasia, complex, with other brain malformations 1;
Fibrosis of extraocular muscles, congenital, 3A
TUBB4A Dystonia 4, torsion, autosomal dominant
TUBG1 Cortical dysplasia, complex, with other brain malformations 4
TUBGCP4 Microcephaly and chorioretinopathy, autosomal recessive, 3
TUBGCP6 Microcephaly and chorioretinopathy, autosomal recessive, 1
VLDLR Cerebellar hypoplasia and mental retardation
with or without quadrupedal locomotion 1
VRK1 Pontocerebellar hypoplasia type 1A
WASHC5 Ritscher-Schinzel syndrome 1;
Spastic paraplegia 8, autosomal dominant
WDFY3 Microcephaly 18, primary; Galloway-Mowat syndrome 6
WDR4 alloway-Mowat syndrome 6
WDR62 Microcephaly 2, primary, autosomal recessive,
with or without cortical malformations
WDR73 Galloway-Mowat syndrome 1
(spinocerebellar ataxia, autosomal recessive 5)
ZEB2 Mowat-Wilson syndrome
ZIC2 Holoprosencephaly 5
ZNF335 Microcephaly 10, primary
ZNF423 Joubert syndrome 19

List of diseases covered by Craniosynostosis NGS panel

Published 11/06/2018

List of diseases covered by
Craniosynostosis NGS panel

Gene Condition
ALX4 Craniosynostosis 5, susceptibility to; Frontonasal dysplasia 2;
Parietal foramina 2
CD96 Opitz trigonocephaly syndrome (C syndrome)
EFNB1 Craniofrontonasal syndrome
ERF Craniosynostosis 4
FGFR1 Pfeiffer syndrome; Encephalocraniocutaneous lipomatosis;
Hartsfield syndrome; Hypogonadotropic hypogonadism 2
with or without anosmia; Jackson-Weiss syndrome;
Osteoglophonic dysplasia; Trigonocephaly 1
FGFR2 Apert syndrome; Beare-Stevenson cutis gyrata syndrome;
Antley-Bixler syndrome without genital anomalies or
disordered steroidogenesis; Bent bone dysplasia syndrome;
Craniofacial-skeletal-dermatologic dysplasia; Crouzon syndrome;
Jackson-Weiss syndrome; LADD syndrome;
Pfeiffer syndrome; Saethre-Chotzen syndrome;
Scaphocephaly, maxillary retrusion, and mental retardation
FGFR3 Achondroplasia; CATSHL syndrome;
Crouzon syndrome with acanthosis nigricans; Hypochondroplasia;
LADD syndrome; Muenke syndrome; SADDAN;
Thanatophoric dysplasia, type I; Thanatophoric dysplasia, type II
FLNA FG syndrome 2; Cardiac valvular dysplasia, X-linked;
Congenital short bowel syndrome; Frontometaphyseal dysplasia 1;
Heterotopia, periventricular; Melnick-Needles syndrome;
Otopalatodigital syndrome, type I;
Otopalatodigital syndrome, type II;
Terminal osseous dysplasia
GLI3 Greig cephalopolysyndactyly syndrome;
Pallister-Hall syndrome; Polydactyly, postaxial, types A1 and B;
Polydactyly, preaxial, type IV
IHH Syndactyly, type 1, with or
without craniosynostosis (duplication 2q35);
Acrocapitofemoral dysplasia; Brachydactyly, type A1
IL11RA Craniosynostosis and dental anomalies
SMAD6 Craniosynostosis 7, susceptibility to
MSX2 Craniosynostosis 2; Parietal foramina 1;
Parietal foramina with cleidocranial dysplasia
POR Antley-Bixler syndrome with genital anomalies
and disordered steroidogenesis;
Disordered steroidogenesis due to cytochrome P450 oxidoreductase
RAB23 Carpenter syndrome
RECQL4 Baller-Gerold syndrome; RAPADILINO syndrome;
Rothmund-Thomson syndrome
SEC24D Cole-Carpenter syndrome 2
SKI Shprintzen-Goldberg syndrome
SOX9 Campomelic dysplasia; Acampomelic campomelic dysplasia;
Campomelic dysplasia with autosomal sex reversal
TCF12 Craniosynostosis-3
TGFBR1 Loeys-Dietz Syndrome; Multiple self-healing squamous epithelioma,
susceptibility to
TGFBR2 Loeys-Dietz Syndrome
TWIST1 Craniosynostosis 1; Robinow-Sorauf syndrome;
Saethre-Chotzen syndrome with or without eyelid anomalies;
Sweeney-Cox syndrome
ZIC1 Craniosynostosis 6; Structural brain anomalies with impaired
intellectual development and craniosynostosis

List of diseases covered by Microcephaly NGS panel

Published 07/06/2018

List of diseases covered by Microcephaly NGS panel

Gene Condition
ANKLE2 Microcephaly 16, primary
AP4M1 Spastic paraplegia 50, autosomal recessive
ASNS Asparagine synthetase deficiency
ASPM Microcephaly 5, primary, autosomal recessive
ATR Seckel syndrome 1;
Cutaneous telangiectasia and cancer syndrome,
familial
CASK Mental retardation and microcephaly
with pontine and cerebellar hypoplasia;
Mental retardation, with or without nystagmus
CDC45 Meier-Gorlin syndrome 7
CDC6 Meier-Gorlin syndrome 5
CDK6 Microcephaly 12, primary
CDK5RAP2 Microcephaly 3, primary, autosomal recessive
CDT1 Meier-Gorlin syndrome 4
CENPE Microcephaly 13, primary
CENPJ Microcephaly 6, primary, autosomal recessive; Seckel syndrome 4
CEP63 Seckel syndrome 6
CEP135 Microcephaly 8, primary, autosomal recessive
CEP152 Microcephaly 9, primary, autosomal recessive; Seckel syndrome 5
CHD7 CHARGE syndrome;
Hypogonadotropic hypogonadism 5 with or without anosmia
CIT Microcephaly 17, primary
COPB1 Microcephaly 19, primary
CREBBP Rubinstein-Taybi syndrome 1; Menke-Hennekam syndrome 1
CTNNA2 Cortical dysplasia, complex, with other brain malformations 9
DHCR7 Smith-Lemli-Opitz syndrome
DHTKD1 2-aminoadipic 2-oxoadipic aciduria
DNA2 Seckel syndrome 8; Progressive external ophthalmoplegia
with mitochondrial DNA deletions, autosomal dominant 6
DONSON Microcephaly-micromelia syndrome;
Microcephaly, short stature, and limb abnormalities
DYRK1A Mental retardation, 7
EFTUD2 Mandibulofacial dysostosis, Guion-Almeida type
EP300 Rubinstein-Taybi syndrome 2; Menke-Hennekam syndrome 2
ERCC6 Cerebrooculofacioskeletal syndrome 1;
Cockayne syndrome, type B; De Sanctis-Cacchione syndrome
EXOSC3 Pontocerebellar hypoplasia, type 1B
FBXO11 Intellectual developmental disorder
with dysmorphic facies and behavioral abnormalities
GMNN Meier-Gorlin syndrome 6
GSX2 Diencephalic-mesencephalic junction dysplasia syndrome 2
HDAC8 Cornelia de Lange syndrome 5;
IER3IP1 Microcephaly, epilepsy, and diabetes syndrome
KIF11 Microcephaly with or without chorioretinopathy, lymphedema,
or mental retardation
KIF14 Microcephaly 20, primary
KIF2A Cortical dysplasia, complex, with other brain malformations 3
KIFBP Goldberg-Shprintzen megacolon syndrome
KIF5C Cortical dysplasia, complex, with other brain malformations 2
KMT2A Wiedemann-Steiner syndrome
KNL1 Microcephaly 4, primary, autosomal recessive
LAGE3 Galloway-Mowat syndrome 2
MCM5 Meier-Gorlin syndrome 8
MCPH1 Microcephaly 1, primary, autosomal recessive
MFSD2A Neurodevelopmental disorder with progressive microcephaly,
spasticity, and brain imaging abnormalities
NACC1 Neurodevelopmental disorder with epilepsy, cataracts,
feeding difficulties, and delayed brain myelination
NCAPD2 Microcephaly 21, primary
NCAPD3 Microcephaly 22, primary
NCAPH Microcephaly 23, primary
NDE1 Microhydranencephaly; Lissencephaly 4 (with microcephaly)
NHEJ1 Severe combined immunodeficiency with microcephaly,
growth retardation, and sensitivity to ionizing radiation
NIN Seckel syndrome 7
NSMCE2 Seckel syndrome 10
NUP107 Galloway-Mowat syndrome 7
NUP133 Galloway-Mowat syndrome 8
NUP37 Microcephaly 24, primary
ORC1 Meier-Gorlin syndrome 1
ORC4 Meier-Gorlin syndrome 2
ORC6 Meier-Gorlin syndrome 3
OSGEP Galloway-Mowat syndrome 3
PAFAH1B1 Lissencephaly 1
PCDH12 Diencephalic-mesencephalic junction dysplasia syndrome 1
PCNT Microcephalic osteodysplastic primordial dwarfism, type II
PHC1 Microcephaly 11, primary
PHGDH Neu-Laxova syndrome 1; Phosphoglycerate dehydrogenase deficiency
PLK4 Microcephaly and chorioretinopathy, 2
PNKP Microcephaly, seizures, and developmental delay;
Ataxia-oculomotor apraxia 4
POMT1 Muscular dystrophy-dystroglycanopathy
(congenital with brain and eye anomalies), type A, 1;
Muscular dystrophy-dystroglycanopathy
(congenital with mental retardation), type B, 1;
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1
PSAT1 Phosphoserine aminotransferase deficiency; Neu-Laxova syndrome 2
PSPH Phosphoserine phosphatase deficiency
RBBP8 Jawad syndrome; Seckel syndrome 2
RTTN Microcephaly, short stature, and polymicrogyria with seizures
SASS6 Microcephaly 14, primary
SLC25A19 Microcephaly, Amish type;
Thiamine metabolism dysfunction syndrome 4
SLC9A6 Mental retardation, X-linked syndromic, Christianson type
STAMBP Microcephaly-capillary malformation syndrome
STIL Microcephaly 7, primary, autosomal recessive
ZEB2 Mowat-Wilson syndrome
ZNF335 Microcephaly 10, primary
TP53RK Galloway-Mowat syndrome 4
TPRKB Galloway-Mowat syndrome 5
TRAIP Seckel syndrome 9
TRAPPC9 Mental retardation, 13
TRMT10A Microcephaly, short stature, and impaired glucose metabolism 1
TUBA8 Cortical dysplasia, complex, with other brain malformations 8
TUBB Cortical dysplasia, complex, with other brain malformations 6;
Symmetric circumferential skin creases, congenital, 1
TUBB3 Cortical dysplasia, complex, with other brain malformations 1;
Fibrosis of extraocular muscles, congenital, 3A
TUBB2A Cortical dysplasia, complex, with other brain malformations 5
TUBB2B Cortical dysplasia, complex, with other brain malformations 7
TUBG1 Cortical dysplasia, complex, with other brain malformations 4
TUBGCP4 Microcephaly and chorioretinopathy, 3
TUBGCP6 Microcephaly and chorioretinopathy, autosomal recessive, 1
WDFY3 Microcephaly 18, primary
WDR4 Galloway-Mowat syndrome 6
WDR62 Microcephaly 2, primary, autosomal recessive,
with or without cortical malformations
WDR73 Galloway-Mowat syndrome 1
(spinocerebellar ataxia, autosomal recessive 5)
XRCC4 Short stature, microcephaly, and endocrine dysfunction

List of diseases covered by Neurodegeneration with Brain Iron Accumulation NGS panel

Published 07/06/2018

List of diseases covered by
Neurodegeneration with Brain Iron Accumulation
NGS panel

Gene Condition
ATP13A2 Kufor-Rakeb syndrome; Spastic paraplegia 78, autosomal recessive
COASY Neurodegeneration with brain iron accumulation 6
C19orf12 Neurodegeneration with brain iron accumulation 4;
Spastic paraplegia 43, autosomal recessive
CP Cerebellar ataxia
DCAF17 Woodhouse-Sakati syndrome
FA2H Spastic paraplegia 35, autosomal recessive
FTL Neurodegeneration with brain iron accumulation 3;
Hyperferritinemia-cataract syndrome; L-ferritin deficiency,
dominant and recessive
PANK2 Neurodegeneration with brain iron accumulation 1; HARP syndrome
PLA2G6 Neurodegeneration with brain iron accumulation 2B;
Infantile neuroaxonal dystrophy 1;
Parkinson disease 14, autosomal recessive
WDR45 Neurodegeneration with brain iron accumulation 5

List of diseases covered by nuclear genes NGS panel

Published 30/05/2018

List of diseases covered by
nuclear genes NGS panel

Gene Condition
AARS2 Combined oxidative phosphorylation deficiency 8; Leukoencephalopathy, progressive, with ovarian failure
AASS Hyperlysinemia
ABAT GABA-transaminase deficiency
ABCB6 Dyschromatosis universalis hereditaria 3; Microphthalmia, isolated, with coloboma 7; Pseudohyperkalemia, familial, 2, due to red cell leak; [Blood group, Langereis system]
ABCB7 Anemia, sideroblastic, with ataxia
ABCD1 Adrenoleukodystrophy; Adrenomyeloneuropathy, adult
ABCD3 ?Bile acid synthesis defect, congenital, 5
ACACA Acetyl-CoA carboxylase deficiency
ACAD8 Isobutyryl-CoA dehydrogenase deficiency
ACAD9 Mitochondrial complex I deficiency due to ACAD9 deficiency
ACADM Acyl-CoA dehydrogenase, medium chain, deficiency of
ACADS Acyl-CoA dehydrogenase, short-chain, deficiency of
ACADSB 2-methylbutyrylglycinuria
ACADVL VLCAD deficiency
ACAT1 Alpha-methylacetoacetic aciduria
ACO2 Infantile cerebellar-retinal degeneration; Optic atrophy 9
ACOX1 Mitchell syndrome; Peroxisomal acyl-CoA oxidase deficiency
ACSF3 Combined malonic and methylmalonic aciduria
ACSL4 Intellectual developmental disorder, X-linked 63
AFG3L2 Spastic ataxia 5, autosomal recessive; Spinocerebellar ataxia 28
AGK Cataract 38, autosomal recessive; Sengers syndrome
AGXT Hyperoxaluria, primary, type 1
AIFM1 Combined oxidative phosphorylation deficiency 6; Cowchock syndrome; Deafness, X-linked 5
AK2 Reticular dysgenesis
ALAS2 Anemia, sideroblastic, 1; Protoporphyria, erythropoietic, X-linked
ALDH18A1 Cutis laxa, autosomal dominant 3; Cutis laxa, autosomal recessive, type IIIA; Spastic paraplegia 9A, autosomal dominant; Spastic paraplegia 9B, autosomal recessive
ALDH2 Alcohol sensitivity, acute; {Esophageal cancer, alcohol-related, susceptibility to}; {Hangover, susceptibility to}; {Sublingual nitroglycerin, susceptibility to poor response to}
ALDH3A2 Sjogren-Larsson syndrome
ALDH4A1 Hyperprolinemia, type II
ALDH5A1 Succinic semialdehyde dehydrogenase deficiency
ALDH6A1 Methylmalonate semialdehyde dehydrogenase deficiency
ALDH7A1 Epilepsy, pyridoxine-dependent
AMACR Alpha-methylacyl-CoA racemase deficiency; Bile acid synthesis defect, congenital, 4
AMT Glycine encephalopathy
APTX Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
ATIC AICA-ribosiduria due to ATIC deficiency
ATP5F1A Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4; Combined oxidative phosphorylation deficiency 22
ATP5F1E Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3
ATP7B Wilson disease
ATPAF2 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1
ATXN2 Spinocerebellar ataxia 2; {Amyotrophic lateral sclerosis, susceptibility to, 13}; {Parkinson disease, late-onset, susceptibility to}
AUH 3-methylglutaconic aciduria, type I
BAX Colorectal cancer, somatic; T-cell acute lymphoblastic leukemia, somatic
BCKDHA Maple syrup urine disease, type Ia
BCKDHB Maple syrup urine disease, type Ib
BCKDK Branched-chain keto acid dehydrogenase kinase deficiency
BCL2 Leukemia/lymphoma, B-cell, 2
BCS1L Mitochondrial complex III deficiency, nuclear type 1; Bjornstad syndrome; GRACILE syndrome; Leigh syndrome
BOLA3 Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia
BRIP1 Fanconi anemia, complementation group J; {Breast cancer, early-onset, susceptibility to}
BTD Biotinidase deficiency
C12orf65 Combined oxidative phosphorylation deficiency 7; Spastic paraplegia 55, autosomal recessive
C19orf12 Neurodegeneration with brain iron accumulation 4; Spastic paraplegia 43, autosomal recessive
CA5A Hyperammonemia due to carbonic anhydrase VA deficiency
CARS2 Combined oxidative phosphorylation deficiency 27
CASP8 ?Autoimmune lymphoproliferative syndrome, type IIB; Hepatocellular carcinoma, somatic; {Breast cancer, protection against}; {Lung cancer, protection against}
CAT Acatalasemia
CAVIN1 Lipodystrophy, congenital generalized, type 4
CEL Maturity-onset diabetes of the young, type VIII
CHCHD10 ?Myopathy, isolated mitochondrial, autosomal dominant; Frontotemporal dementia and/or amyotrophic lateral sclerosis 2; Spinal muscular atrophy, Jokela type
CISD2 Wolfram syndrome 2
CLPB 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia
CLPP Perrault syndrome 3
COA5 Cardioencephalomyopathy, fatal infantile; due to cytochrome c oxidase deficiency 3
COA6 Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4
COA8 Mitochondrial complex IV deficiency
COASY Neurodegeneration with brain iron accumulation 6; Pontocerebellar hypoplasia, type 12
COMT {Panic disorder, susceptibility to}; {Schizophrenia, susceptibility to}
COQ2 Coenzyme Q10 deficiency, primary, 1; Multiple system atrophy, susceptibility to
COQ4 Coenzyme Q10 deficiency, primary, 7
COQ6 Coenzyme Q10 deficiency, primary, 6
COQ8A Coenzyme Q10 deficiency, primary, 4
COQ8B Nephrotic syndrome, type 9
COQ9 Coenzyme Q10 deficiency, primary, 5
COQ9 Coenzyme Q10 deficiency, primary, 5
COX10 Mitochondrial complex IV deficiency; Leigh syndrome due to mitochondrial COX4 deficiency
COX14 Mitochondrial complex IV deficiency
COX15 Leigh syndrome due to cytochrome c oxidase deficiency; Cardioencephalomyopathy, fatal infantile due to cytochrome c oxidase deficiency 2
COX20 Mitochondrial complex IV deficiency
COX4I2 Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis
COX6A1 Charcot-Marie-Tooth disease, recessive intermediate D
COX6A2 Mitochondrial complex IV deficiency
COX6B1 Mitochondrial complex IV deficiency
COX7B Linear skin defects with multiple congenital anomalies 2
COX8A2 Mitochondrial complex IV deficiency
CPOX Coproporphyria; Harderoporphyria
CPS1 Carbamoylphosphate synthetase I deficiency; {Pulmonary hypertension, neonatal, susceptibility to}
CPT1A CPT deficiency, hepatic, type IA
CPT1C ?Spastic paraplegia 73, autosomal dominant
CPT2 CPT II deficiency, infantile; CPT II deficiency, lethal neonatal; CPT II deficiency, myopathic, stress-induced
CRBN Mental retardation, autosomal recessive 2
CYB5A Methemoglobinemia and ambiguous genitalia
CYB5R3 Methemoglobinemia, type I; Methemoglobinemia, type II
CYC1 Mitochondrial complex III deficiency, nuclear type 6
CYCS Thrombocytopenia 4
CYP11A1 Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete
CYP11B1 Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency; Aldosteronism, glucocorticoid-remediable
CYP11B2 Aldosterone to renin ratio raised; Hypoaldosteronism, congenital, due to CMO I deficiency; Hypoaldosteronism, congenital, due to CMO II deficiency; {Low renin hypertension, susceptibility to}
CYP24A1 Hypercalcemia, infantile, 1
CYP27A1 Cerebrotendinous xanthomatosis
CYP27B1 Vitamin D-dependent rickets, type I
D2HGDH D-2-hydroxyglutaric aciduria
DARS2 Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation
DBT Maple syrup urine disease, type II
DGUOK Mitochondrial DNA depletion syndrome 3 (hepatocerebral type); Portal hypertension, noncirrhotic; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4
DHCR24 Desmosterolosis
DHODH Miller syndrome
DHTKD1 ?Charcot-Marie-Tooth disease, axonal, type 2Q; Alpha-aminoadipic and alpha-ketoadipic aciduria
DIABLO Deafness, autosomal dominant 64
DLAT Pyruvate dehydrogenase E2 deficiency
DLD Dihydrolipoamide dehydrogenase deficiency
DMGDH Dimethylglycine dehydrogenase deficiency
DMPK Myotonic dystrophy 1
DNA2 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6; Seckel syndrome 8
DNAJC19 3-methylglutaconic aciduria, type V
DNAJC3 ?Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus
DNM1L Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1; Optic atrophy 5
EARS2 Combined oxidative phosphorylation deficiency 12
ECHS1 Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency
ELAC2 Combined oxidative phosphorylation deficiency 17
EPHX2 {Hypercholesterolemia, familial, due to LDLR defect, modifier of}
ETFA Glutaric acidemia IIA
ETFB Glutaric acidemia IIB
ETFDH Glutaric acidemia IIC
ETHE1 Ethylmalonic encephalopathy
FAH Tyrosinemia, type I
FARS2 Combined oxidative phosphorylation deficiency 14; Spastic paraplegia 77, autosomal recessive
FASTKD2 Mitochondrial complex IV deficiency
FBP1 Fructose-1,6-bisphosphatase deficiency
FBXL4 Mitochondrial DNA depletion syndrome 13
FDX2 Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy
FECH Protoporphyria, erythropoietic, 1
FH Fumarase deficiency; Leiomyomatosis and renal cell cancer
FKBP10 Bruck syndrome 1; Osteogenesis imperfecta, type XI
FLAD1 Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency
FOXRED1 Leigh syndrome due to mitochondrial complex I deficiency; Mitochondrial complex I deficiency
FTH1 ?Hemochromatosis, type 5
FXN Friedreich ataxia; Friedreich ataxia with retained reflexes
G6PC Glycogen storage disease Ia
GAMT Cerebral creatine deficiency syndrome 2
GARS1 Neuronopathy, distal hereditary motor, type VA; Charcot-Marie-Tooth disease, type 2D
GATM Cerebral creatine deficiency syndrome 3
GCDH Glutaricaciduria, type I
GDAP1 Charcot-Marie-Tooth disease, axonal, type 2K; Charcot-Marie-Tooth disease, axonal, with vocal cord paresis; Charcot-Marie-Tooth disease, recessive intermediate, A; Charcot-Marie-Tooth disease, type 4A
GFER Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay
GFM1 Combined oxidative phosphorylation deficiency 1
GFM2 Combined oxidative phosphorylation deficiency 39
GK Glycerol kinase deficiency
GLDC Glycine encephalopathy
GLRX5 Spasticity, childhood-onset, with hyperglycinemia; Anemia, sideroblastic, 3, pyridoxine-refractory
GLUD1 Hyperinsulinism-hyperammonemia syndrome
GLYCTK D-glyceric aciduria
GPI Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency
GPT2 Neurodevelopmental disorder with microcephaly and spastic paraplegia
GPX1 Hemolytic anemia due to glutathione peroxidase deficiency
GRHPR Hyperoxaluria, primary, type II
GSR Hemolytic anemia due to glutathione reductase deficiency
GTPBP3 Combined oxidative phosphorylation deficiency 23
GYS2 Glycogen storage disease 0, liver
HADH 3-hydroxyacyl-CoA dehydrogenase deficiency; Hyperinsulinemic hypoglycemia, familial, 4
HADHA LCHAD deficiency; Trifunctional protein deficiency
HAMP Hemochromatosis, type 2B
HARS2 Perrault syndrome 2
HAX1 Neutropenia, severe congenital 3, autosomal recessive
HCCS Linear skin defects with multiple congenital anomalies 1
HIBCH 3-hydroxyisobutryl-CoA hydrolase deficiency
HINT1 Neuromyotonia and axonal neuropathy, autosomal recessive
HK1 Hemolytic anemia due to hexokinase deficiency; Neurodevelopmental disorder with visual defects and brain anomalies; Neuropathy, hereditary motor and sensory, Russe type; Retinitis pigmentosa 79
HLCS Holocarboxylase synthetase deficiency
HLCS Holocarboxylase synthetase deficiency
HMBS Porphyria, acute intermittent; Porphyria, acute intermittent, nonerythroid variant
HMGCL HMG-CoA lyase deficiency
HMGCS2 HMG-CoA synthase-2 deficiency
HOGA1 Hyperoxaluria, primary, type III
HSD17B10 HSD10 mitochondrial disease
HSD17B4 D-bifunctional protein deficiency; Perrault syndrome 1
HSD3B2 Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency
HSPA9 Anemia, sideroblastic, 4; Even-plus syndrome
HSPD1 Leukodystrophy, hypomyelinating, 4; Spastic paraplegia 13, autosomal dominant
HTRA2 3-methylglutaconic aciduria, type VIII
IDH2 D-2-hydroxyglutaric aciduria 2
IDH3B Retinitis pigmentosa 46
ISCU Myopathy with lactic acidosis, hereditary
IVD Isovaleric acidemia
KARS1 ?Charcot-Marie-Tooth disease, recessive intermediate, B; Deafness, autosomal recessive 89; Deafness, congenital, and adult-onset progressive leukoencephalopathy; Leukoencephalopathy, progressive, infantile-onset, with or without deafness
KIF1B Charcot-Marie-Tooth disease, type 2A1; Pheochromocytoma; {Neuroblastoma, susceptibility to, 1}
KRT5 Dowling-Degos disease 1; Epidermolysis bullosa simplex 2A, generalized severe; Epidermolysis bullosa simplex 2B, generalized intermediate; Epidermolysis bullosa simplex 2C, localized; Epidermolysis bullosa simplex 2D, generalized, intermediate or severe, autosomal recessive; Epidermolysis bullosa simplex 2E, with migratory circinate erythema; Epidermolysis bullosa simplex 2F, with mottled pigmentation
L2HGDH L-2-hydroxyglutaric aciduria
LONP1 CODAS syndrome
LRPPRC Leigh syndrome, French-Canadian type
MAOA Brunner syndrome; {Antisocial behavior}
MCCC1 3-Methylcrotonyl-CoA carboxylase 1 deficiency
MCCC2 3-Methylcrotonyl-CoA carboxylase 2 deficiency
MCEE Methylmalonyl-CoA epimerase deficiency
MFN2 Charcot-Marie-Tooth disease, axonal, type 2A2A; Charcot-Marie-Tooth disease, axonal, type 2A2B; Hereditary motor and sensory neuropathy VIA
MIP Cataract 15, multiple types
MLYCD Malonyl-CoA decarboxylase deficiency
MMAA Methylmalonic aciduria, vitamin B12-responsive, cblA type
MMAB Methylmalonic aciduria, vitamin B12-responsive, cblB type
MMACHC Methylmalonic aciduria and homocystinuria, cblC type
MMADHC Homocystinuria, cblD type, variant 1; Methylmalonic aciduria and homocystinuria, cblD type; Methylmalonic aciduria, cblD type, variant 2
MMUT Methylmalonic aciduria, mut(0) type
MOCS1 Molybdenum cofactor deficiency A
MPV17 Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
MRPL3 Combined oxidative phosphorylation deficiency 9
MRPL44 Combined oxidative phosphorylation deficiency 16
MRPS16 Combined oxidative phosphorylation deficiency 2
MRPS22 Combined oxidative phosphorylation deficiency 5
MRPS7 Combined oxidative phosphorylation deficiency 34
MSRB3 Deafness, autosomal recessive 74
MTFMT Combined oxidative phosphorylation deficiency 15
MTO1 Combined oxidative phosphorylation deficiency 10
MTPAP Spastic ataxia 4, autosomal recessive
MTRR Homocystinuria-megaloblastic anemia, cbl E type; {Neural tube defects, folate-sensitive, susceptibility to}
NADK2 2,4-dienoyl-CoA reductase deficiency
NAGS N-acetylglutamate synthase deficiency
NARS2 Combined oxidative phosphorylation deficiency 24; Deafness, autosomal recessive 94
NBAS Infantile liver failure syndrome 2; Short stature, optic nerve atrophy, and Pelger-Huet anomaly
NDUFA1 Mitochondrial complex I deficiency
NDUFA10 Leigh syndrome
NDUFA11 Mitochondrial complex I deficiency
NDUFA12 Leigh syndrome due to mitochondrial complex 1 deficiency
NDUFA2 Leigh syndrome due to mitochondrial complex I deficiency
NDUFA9 Mitochondrial complex I deficiency, nuclear type 26
NDUFA9 Mitochondrial complex I deficiency, nuclear type 26
NDUFAF1 Mitochondrial complex I deficiency
NDUFAF2 Mitochondrial complex I deficiency
NDUFAF3 Mitochondrial complex I deficiency
NDUFAF4 Mitochondrial complex I deficiency
NDUFAF5 Mitochondrial complex 1 deficiency
NDUFAF6 Mitochondrial complex I deficiency, nuclear type 17
NDUFB11 ?Mitochondrial complex I deficiency, nuclear type 30; Linear skin defects with multiple congenital anomalies 3
NDUFB11 Mitochondrial complex I deficiency, nuclear type 30; Linear skin defects with multiple congenital anomalies 3
NDUFB3 Mitochondrial complex I deficiency
NDUFB9 Mitochondrial complex I deficiency
NDUFS1 Mitochondrial complex I deficiency
NDUFS2 Mitochondrial complex I deficiency
NDUFS3 Leigh syndrome due to mitochondrial complex I deficiency; Mitochondrial complex I deficiency
NDUFS4 Leigh syndrome; Mitochondrial complex I deficiency
NDUFS6 Mitochondrial complex I deficiency
NDUFS7 Leigh syndrome
NDUFS8 Leigh syndrome due to mitochondrial complex I deficiency
NDUFV1 Mitochondrial complex I deficiency
NDUFV2 Mitochondrial complex I deficiency
NFU1 Multiple mitochondrial dysfunctions syndrome 1
NNT Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency
NR2F1 Bosch-Boonstra-Schaaf optic atrophy syndrome
NTHL1 Familial adenomatous polyposis 3
NUBPL Mitochondrial complex I deficiency
OAT Gyrate atrophy of choroid and retina with or without ornithinemia
OGDH ?Oxoglutarate dehydrogenase deficiency
OGG1 Renal cell carcinoma, clear cell, somatic
OPA1 Mitochondrial DNA depletion syndrome 14; Behr syndrome; Optic atrophy 1; Optic atrophy plus syndrome
OPA3 3-methylglutaconic aciduria, type III; Optic atrophy 3 with cataract
OTC Ornithine transcarbamylase deficiency
OTC Ornithine transcarbamylase deficiency
OXCT1 Succinyl CoA:3-oxoacid CoA transferase deficiency
P4HB Cole-Carpenter syndrome 1
PAM16 Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type
PANK2 HARP syndrome; Neurodegeneration with brain iron accumulation 1
PARK7 Parkinson disease 7, autosomal recessive early-onset
PARS2 Epileptic encephalopathy, early infantile, 75
PC Pyruvate carboxylase deficiency
PC Pyruvate carboxylase deficiency
PCCA Propionicacidemia
PCCA Propionicacidemia
PCCB Propionicacidemia
PCCB Propionicacidemia
PCK2 PEPCK deficiency, mitochondrial
PDHA1 Pyruvate dehydrogenase E1-alpha deficiency
PDHB Pyruvate dehydrogenase E1-beta deficiency
PDHX Lacticacidemia due to PDX1 deficiency
PDK3 ?Charcot-Marie-Tooth disease, X-linked dominant, 6
PDP1 Pyruvate dehydrogenase phosphatase deficiency
PDSS1 Coenzyme Q10 deficiency, primary, 2
PDSS2 Coenzyme Q10 deficiency, primary, 3
PDX1 MODY, type IV; Pancreatic agenesis 1
PET100 Mitochondrial complex IV deficiency
PEX11B Peroxisome biogenesis disorder 14B
PHYH Refsum disease
PINK1 Parkinson disease 6, early onset
PKLR Adenosine triphosphate, elevated, of erythrocytes; Pyruvate kinase deficiency
PNPLA8 ?Mitochondrial myopathy with lactic acidosis
PNPO Pyridoxamine 5′-phosphate oxidase deficiency
PNPT1 Combined oxidative phosphorylation deficiency 13; Deafness, autosomal recessive 70
PNPT1 Combined oxidative phosphorylation deficiency 13; Deafness, autosomal recessive 70
POLG Mitochondrial DNA depletion syndrome 4A (Alpers type); Mitochondrial DNA depletion syndrome 4B (MNGIE type); Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE); Progressive external ophthalmoplegia, autosomal dominant 1; Progressive external ophthalmoplegia, autosomal recessive 1
POLG2 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4
PPOX Porphyria variegata
PRODH Hyperprolinemia, type I; {Schizophrenia, susceptibility to, 4}
PTRH2 Infantile-onset multisystem neurologic, endocrine, and pancreatic disease
PTS Hyperphenylalaninemia, BH4-deficient, A
PUS1 Myopathy, lactic acidosis, and sideroblastic anemia 1
PYCR1 Cutis laxa, autosomal recessive, type IIB; Cutis laxa, autosomal recessive, type IIIB
PYCR2 Leukodystrophy, hypomyelinating, 10
QDPR Hyperphenylalaninemia, BH4-deficient, C
RARS2 Pontocerebellar hypoplasia, type 6
RDH11 ?Retinal dystrophy, juvenile cataracts, and short stature syndrome
REEP1 Neuronopathy, distal hereditary motor, type VB; Spastic paraplegia 31, autosomal dominant
RMND1 Combined oxidative phosphorylation deficiency 11
RMND1 Combined oxidative phosphorylation deficiency 11
RNASEH1 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2
RNASEL Prostate cancer 1
RPIA Ribose 5-phosphate isomerase deficiency
RPL35A Diamond-Blackfan anemia 5
RPS14 Macrocytic anemia, refractory, due to 5q deletion, somatic
RRM2B Mitochondrial DNA depletion syndrome 8A; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5
SARS2 Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis
SCO1 Mitochondrial complex IV deficiency
SCO2 Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1; Myopia 6
SDHA Mitochondrial respiratory chain complex II deficiency; Leigh syndrome; Cardiomyopathy, dilated, 1GG; Paragangliomas 5
SDHAF1 Mitochondrial complex II deficiency
SDHAF2 Paragangliomas 2
SECISBP2 Thyroid hormone metabolism, abnormal
SERAC1 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
SERAC1 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
SETX Amyotrophic lateral sclerosis 4, juvenile; Spinocerebellar ataxia, autosomal recessive 1
SFXN4 Combined oxidative phosphorylation deficiency 18
SFXN4 Combined oxidative phosphorylation deficiency 18
SLC16A1 Erythrocyte lactate transporter defect; Hyperinsulinemic hypoglycemia, familial, 7; Monocarboxylate transporter 1 deficiency
SLC19A3 Thiamine metabolism dysfunction syndrome 2
SLC25A12 Developmental and epileptic encephalopathy 39
SLC25A13 Citrullinemia, adult-onset type II; Citrullinemia, type II, neonatal-onset
SLC25A15 Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome
SLC25A19 Microcephaly, Amish type; Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type)
SLC25A20 Carnitine-acylcarnitine translocase deficiency
SLC25A22 Developmental and epileptic encephalopathy 3
SLC25A26 Combined oxidative phosphorylation deficiency 28
SLC25A3 Mitochondrial phosphate carrier deficiency
SLC25A3 Mitochondrial phosphate carrier deficiency
SLC25A38 Anemia, sideroblastic, 2, pyridoxine-refractory
SLC25A4 Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD; Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2
SLC25A46 Neuropathy, hereditary motor and sensory, type VIB
SLC37A4 Glycogen storage disease Ib; Glycogen storage disease Ic
SLC6A8 Cerebral creatine deficiency syndrome 1
SLC9A6 Intellectual developmental disorder, X-linked syndromic, Christianson type
SNAP29 Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome
SOD1 Amyotrophic lateral sclerosis 1
SOD2 {Microvascular complications of diabetes 6}
SPAST Spastic paraplegia 4, autosomal dominant
SPG7 Spastic paraplegia 7, autosomal recessive
SPR Dystonia, dopa-responsive, due to sepiapterin reductase deficiency
SPTLC2 Neuropathy, hereditary sensory and autonomic, type IC
SUCLA2 Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)
SUCLA2 Mitochondrial DNA depletion syndrome 5
SUCLG1 Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)
SUCLG1 Mitochondrial DNA depletion syndrome 9
SUGCT Glutaric aciduria III
SUOX Sulfite oxidase deficiency
SURF1 Charcot-Marie-Tooth disease, type 4K; Mitochondrial complex IV deficiency, nuclear type 1
SURF1 Charcot-Marie-Tooth disease, type 4K; Leigh syndrome, due to COX IV deficiency
TACO1 Mitochondrial complex IV deficiency
TARS2 Combined oxidative phosphorylation deficiency 21
TAZ Barth syndrome
TCIRG1 Osteopetrosis, autosomal recessive 1
TFAM Mitochondrial DNA depletion syndrome 15
TFR2 Hemochromatosis, type 3
TIMM8A Mohr-Tranebjaerg syndrome
TK2 Mitochondrial DNA depletion syndrome 2; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3
TMEM126A Optic atrophy 7
TMEM126B Mitochondrial complex I deficiency, nuclear type 29
TMEM70 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
TMLHE {Autism, susceptibility to, X-linked 6}
TPI1 Hemolytic anemia due to triosephosphate isomerase deficiency
TPK1 Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)
TRIT1 Combined oxidative phosphorylation deficiency 35
TRMT10C Combined oxidative phosphorylation deficiency 30
TRMU Liver failure, transient infantile; Deafness, mitochondrial, modifier of
TRNT1 Retinitis pigmentosa and erythrocytic microcytosis; Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay
TSFM Combined oxidative phosphorylation deficiency 3
TTC19 Mitochondrial complex III deficiency, nuclear type 2
TUBB3 Cortical dysplasia, complex, with other brain malformations 1; Fibrosis of extraocular muscles, congenital, 3A
TUFM Combined oxidative phosphorylation deficiency 4
TWNK Mitochondrial DNA depletion syndrome 7; Perrault syndrome 5; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
TYMP Mitochondrial DNA depletion syndrome 1 (MNGIE type)
UNG Immunodeficiency with hyper IgM, type 5
UQCC2 Mitochondrial complex III deficiency, nuclear type 7
UQCC3 Mitochondrial complex III deficiency, nuclear type 9
UQCRB Mitochondrial complex III deficiency, nuclear type 3
UQCRC2 Mitochondrial complex III deficiency, nuclear type 5
UQCRQ Mitochondrial complex III deficiency, nuclear type 4
VARS2 Combined oxidative phosphorylation deficiency 20
WDR81 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2; Hydrocephalus, congenital, 3, with brain anomalies
WFS1 Deafness, autosomal dominant 6/14/38; Wolfram syndrome 1; Wolfram-like syndrome, autosomal dominant; Cataract 41; Diabetes mellitus, noninsulin-dependent, association with
XPNPEP3 Nephronophthisis-like nephropathy 1
YARS2 Myopathy, lactic acidosis, and sideroblastic anemia 2

List of diseases covered by Limb-Girdle Muscular Dystrophy NGS panel

Published 29/05/2018

List of diseases covered by
Limb-Girdle Muscular Dystrophy NGS panel

Gene Condition
ANO5 Muscular dystrophy, limb-girdle, type 2L;
Miyoshi muscular dystrophy 3; Gnathodiaphyseal dysplasia
BVES Muscular dystrophy, limb-girdle, autosomal recessive 25
CAPN3 Muscular dystrophy, limb-girdle, type 2A
CAV3 Muscular dystrophy, limb-girdle, type IC;
Cardiomyopathy, familial hypertrophic;
Creatine phosphokinase, elevated serum;
Long QT syndrome 9; Myopathy, distal, Tateyama type;
Rippling muscle disease
CRPPA Muscular dystrophy-dystroglycanopathy, type A, 7;
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7
DAG1 Muscular dystrophy-dystroglycanopathy, type A, 9;
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9
DES Muscular dystrophy, limb-girdle, type 2R;
Cardiomyopathy, dilated, 1I; Myopathy, myofibrillar, 1;
Scapuloperoneal syndrome, neurogenic, Kaeser type
DMD Becker muscular dystrophy;
Cardiomyopathy, dilated, 3B; Duchenne muscular dystrophy
DNAJB6 Muscular dystrophy, limb-girdle, type 1E
DOK7 Fetal akinesia deformation sequence 3;
Myasthenic syndrome, congenital, 10
DYSF Muscular dystrophy, limb-girdle, type 2B;
Miyoshi muscular dystrophy 1; Myopathy, distal, with anterior tibial onset
FKRP Muscular dystrophy-dystroglycanopathy
(congenital with brain and eye anomalies), type A, 5;
Muscular dystrophy-dystroglycanopathy
(congenital with or without mental retardation), type B, 5;
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5
FKTN Muscular dystrophy-dystroglycanopathy, type A, 4;
Muscular dystrophy-dystroglycanopathy, type B, 4;
Muscular dystrophy-dystroglycanopathy
(limb-girdle), type C, 4; Cardiomyopathy, dilated, 1X
GAA Glycogen storage disease II
GMPPB Muscular dystrophy-dystroglycanopathy, type A, 14;
Muscular dystrophy-dystroglycanopathy, type B, 14;
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14
HNRNPDL Muscular dystrophy, limb-girdle, type 1G
LAMA2 Muscular dystrophy, congenital,
merosin deficient or partially deficient;
Muscular dystrophy, limb-girdle, autosomal recessive 23
LIMS2 Muscular dystrophy, autosomal recessive,
with cardiomyopathy and triangular tongue
LMNA Muscular dystrophy, limb-girdle, type 1B;
Charcot-Marie-Tooth disease, type 2B1;
Cardiomyopathy, dilated, 1A;
Emery-Dreifuss muscular dystrophy 2, AD;
Emery-Dreifuss muscular dystrophy 3, AR;
Muscular dystrophy, congenital
MYOT Muscular dystrophy, limb-girdle, type 1A; Myopathy, myofibrillar, 3;
Myopathy, spheroid body
PLEC Muscular dystrophy, limb-girdle, type 2Q;
Epidermolysis bullosa simplex with nail dystrophy;
Epidermolysis bullosa simplex with muscular dystrophy;
Epidermolysis bullosa simplex with pyloric atresia;
Epidermolysis bullosa simplex, Ogna type
PNPLA2 Neutral lipid storage disease with myopathy
POMGNT1 Muscular dystrophy-dystroglycanopathy, type A, 3;
Muscular dystrophy-dystroglycanopathy, type B, 3;
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3
POMGNT2 Muscular dystrophy-dystroglycanopathy
(congenital with brain and eye anomalies, type A, 8;
Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8
POMK Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12;
Muscular dystrophy-dystroglycanopathy, type A, 12
POMT1 Muscular dystrophy-dystroglycanopathy, type A, 1;
Muscular dystrophy-dystroglycanopathy, type B, 1;
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1
POMT2 Muscular dystrophy-dystroglycanopathy, type A, 2;
Muscular dystrophy-dystroglycanopathy, type B, 2;
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2
SELENON Muscular dystrophy, rigid spine, 1;
Myopathy, congenital, with fiber-type disproportion
SGCA Muscular dystrophy, limb-girdle, type 2D
SGCB Muscular dystrophy, limb-girdle, type 2E
SGCD Muscular dystrophy, limb-girdle, type 2F;
Cardiomyopathy, dilated, 1L
SGCG Muscular dystrophy, limb-girdle, type 2C
SMCHD1 Fascioscapulohumeral muscular dystrophy 2, digenic;
Bosma arhinia microphthalmia syndrome
SYNE1 Arthrogryposis multiplex congenita 3, myogenic type;
Emery-Dreifuss muscular dystrophy 4, autosomal dominant;
Spinocerebellar ataxia, autosomal recessive 8
TCAP Muscular dystrophy, limb-girdle, type 2G;
Cardiomyopathy, hypertrophic, 25
TNPO3 Muscular dystrophy, limb-girdle, type 1F
TOR1AIP1 Muscular dystrophy, autosomal recessive,
with rigid spine and distal joint contractures
TRAPPC11 Muscular dystrophy, limb-girdle, type 2S
TRIM32 Muscular dystrophy, limb-girdle, type 2H;
Bardet-Biedl syndrome 11
TTN Muscular dystrophy, limb-girdle, type 2J;
Myopathy, proximal, with early respiratory muscle involvement;
Salih myopathy; Tibial muscular dystrophy, tardive;
Cardiomyopathy, dilated, 1G; Cardiomyopathy, familial hypertrophic, 9