List of diseases covered by
Parkinson’s Disease NGS panel
Gene | Condition |
ADH1C | Parkinson disease, susceptibility to |
ATP1A3 | Alternating hemiplegia of childhood 2; CAPOS syndrome; Dystonia-12 |
ATP13A2 | Parkinson disease 9; Spastic paraplegia 78, autosomal recessive |
ATP6AP2 | Parkinsonism with spasticity, X-linked; Mental retardation, X-linked, syndromic, Hedera type |
ATXN2 | Parkinson disease, late-onset, susceptibility to; Spinocerebellar ataxia 2 |
CHCHD2 | Parkinson disease 22, autosomal dominant |
DCTN1 | Neuropathy, distal hereditary motor, type VIIB; Perry syndrome; Amyotrophic lateral sclerosis, susceptibility to |
DNAJC6 | Parkinson disease 19a, juvenile-onset |
EIF4G1 | Parkinson disease 18 |
FBXO7 | Parkinson disease 15, autosomal recessive |
FTL | Neurodegeneration with brain iron accumulation 3; Hyperferritinemia-cataract syndrome; L-ferritin deficiency, dominant and recessive |
GBA | Parkinson disease, late-onset, susceptibility to; Lewy body dementia, susceptibility to; Gaucher disease, type I; Gaucher disease, type II; Gaucher disease, type III; Gaucher disease, type IIIc; Gaucher disease, perinatal lethal |
GCH1 | Dystonia, DOPA-responsive, with or without hyperphenylalaninemia; Hyperphenylalaninemia, BH4-deficient, B |
GIGYF2 | Parkinson disease 11 |
HTRA2 | Parkinson disease 13; 3-methylglutaconic aciduria, type VIII |
LRRK2 | Parkinson disease 8 |
MAPT | Dementia, frontotemporal, with or without parkinsonism; Parkinson disease, susceptibility to; Pick disease; Supranuclear palsy, progressive; Supranuclear palsy, progressive atypical |
PARK7 | Parkinson disease 7, autosomal recessive early-onset |
PINK1 | Parkinson disease 6, early onset |
PLA2G6 | Parkinson disease 14, autosomal recessive; Neurodegeneration with brain iron accumulation 2B; Infantile neuroaxonal dystrophy 1 |
PRKN | Parkinson disease, juvenile, type 2 |
PRKRA | Dystonia 16 |
RAB39B | Mental retardation, X-linked 72; Waisman syndrome |
SLC6A3 | Parkinsonism-dystonia, infantile |
SLC30A10 | Hypermanganesemia with dystonia 1 |
SNCA | Parkinson disease 1; Parkinson disease 4; Dementia, Lewy body |
SNCB | Dementia, Lewy body |
SPG11 | Amyotrophic lateral sclerosis 5, juvenile; Charcot-Marie-Tooth disease, axonal, type 2X; Spastic paraplegia 11, autosomal recessive |
SPR | Dystonia, dopa-responsive, due to sepiapterin reductase deficiency |
SYNJ1 | Parkinson disease 20, early-onset; Epileptic encephalopathy, early infantile, 53 |
TAF1 | Dystonia-Parkinsonism, X-linked; Mental retardation, X-linked, syndromic 33 |
TBP | Parkinson disease, susceptibility to; Spinocerebellar ataxia 17 |
TH | Segawa syndrome, recessive |
UCHL1 | Parkinson disease 5, susceptibility to; Spastic paraplegia 79, autosomal recessive |
VPS35 | Parkinson disease 17 |
VPS13C | Parkinson disease 23, autosomal recessive, early onset |