Gene | Associated phenotypes | Inheritance | ClinVar | HGMD |
---|
ALS2 | Amyotrophic lateral sclerosis, Spastic paralysis | AR | 33 | 68 |
ANG | Amyotrophic lateral sclerosis | AD | 8 | 37 |
ATL1 | Spastic paraplegia, Neuropathy, hereditary sensory | AD | 29 | 84 |
BSCL2 | Lipodystrophy, congenital generalized, Encephalopathy, progressive, Neuropathy, distal hereditary motor, type VA, Charcot-Marie-Tooth disease type 2, Silver syndrome, Silver spastic paraplegia syndrome, Spastic paraplegia 17 | AD/AR | 34 | 50 |
CHCHD10 | Myopathy, isolated mitochondrial, Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, Spinal muscular atrophy, Jokela type | AD | 4 | 26 |
CHMP2B | Amyotrophic lateral sclerosis, CHMP2B-related, Frontotemporal dementia | AD | 6 | 21 |
DCTN1 | Perry syndrome, Neuropathy, distal hereditary motor | AD | 10 | 52 |
FIG4 | Amyotrophic lateral sclerosis, Polymicrogyria, bilateral occipital, Yunis-Varon syndrome, Charcot-Marie-Tooth disease | AD/AR | 34 | 69 |
FUS | Amyotrophic lateral sclerosis, Essential tremor | AD/AR | 22 | 111 |
GBE1 | Glycogen storage disease | AR | 36 | 70 |
GRN | Frontotemporal lobar degeneration with TDP43 inclusions, GRN-related, Neuronal ceroid lipofuscinosis | AD/AR | 43 | 214 |
HEXA | Tay-Sachs disease, GM2-gangliosidosis, Hexosaminidase A deficiency | AR | 128 | 194 |
HNRNPA1* | Amyotrophic lateral sclerosis, Inclusion body myopathy with early-onset Paget disease | AD | 20 | 11 |
HSPD1* | Spastic paraplegia, Leukodystrophy, hypomyelinating | AD/AR | 5 | 5 |
KIAA0196 | Spastic paraplegia, Ritscher-Schinzel syndrome (3C syndrome) | AD/AR | 15 | 18 |
KIF5A | Spastic paraplegia | AD | 18 | 62 |
MATR3* | Amyotrophic lateral sclerosis 21 | AD | 4 | 16 |
OPTN | Glaucoma, open angle, Glaucoma, normal tension, Amyotrophic lateral sclerosis 12 | AD | 13 | 61 |
PFN1 | Amyotrophic lateral sclerosis 18 | AD | 5 | 8 |
PRF1 | Lymphoma, non-Hodgkin, Aplastic anemia, adult-onset, Hemophagocytic lymphohistiocytosis | AR | 24 | 183 |
REEP1 | Spastic paraplegia, Distal hereditary motor neuronopathy | AD | 16 | 60 |
SETX | Ataxia with oculomotor apraxia, Amyotrophic lateral sclerosis, juvenile, Spinocerebellar ataxia | AD/AR | 36 | 210 |
SLC52A2 | Brown-Vialetto-Van Laere syndrome | AR | 27 | 25 |
SLC52A3 | Fazio-Londe disease, Brown-Vialetto-Van Laere syndrome | AR | 30 | 42 |
SOD1 | Amyotrophic lateral sclerosis, Keratoconus | AD/AR | 40 | 215 |
SPAST | Spastic paraplegia | AD | 193 | 723 |
SPG11 | Spastic paraplegia, Amyotrophic lateral sclerosis, Charcot-Marie-Tooth disease | AR | 162 | 274 |
SPG20 | Spastic paraplegia (Troyer syndrome) | AR | 9 | 7 |
SQSTM1 | Paget disease of bone, Frontotemporal dementia and/or amyotrophic lateral sclerosis 3, Myopathy, distal, with rimmed vacuoles, Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset | AD/AR | 10 | 97 |
TARDBP* | Amyotrophic lateral sclerosis | AD | 20 | 69 |
TIA1 | Welander distal myopathy | AD | 1 | 13 |
TUBA4A | Amyotrophic lateral sclerosis 22 | AD | 6 | 13 |
UBQLN2 | Amyotrophic lateral sclerosis | XL | 5 | 31 |
VAPB | Amyotrophic lateral sclerosis, Spinal muscular atrophy, late-onset, Finkel | AD | 2 | 9 |
VCP | Amyotrophic lateral sclerosis, Inclusion body myopathy with early-onset Paget disease, Charcot-Marie-Tooth disease | AD | 17 | 61 |