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 |