GENE | OMIM DISEASES | INHERITANCE* | % GENE COVERAGE (20X) | HGMD** |
ALS2 | Amyotrophic Lateral Sclerosis, Primary Lateral Sclerosis, Spastic Paralysis | AR | 99.09 | 83 of 83 |
ANG | Amyotrophic Lateral Sclerosis | AD | – | – |
ANXA11 | Amyotrophic Lateral Sclerosis | AD | 99.91 | 15 of 15 |
ATL1 | Neuropathy, Spastic Paraplegia | AD | 100 | 93 of 93 |
ATXN2 | Parkinson Disease, Spinocerebellar Ataxia, Amyotrophic Lateral Sclerosis | AD | 91.78 | 9 of 10 |
BSCL2 | Encephalopathy, Lipodystrophy, Neuronopathy, Spastic Paraplegia, Neurodegenerative Syndrome | AD,AR | 99.83 | 60 of 61 |
C9ORF72 | Amyotrophic Lateral Sclerosis, Frontotemporal And Semantic Dementia, Huntington Disease, Aphasia | AD | – | – |
CCNF | Amyotrophic Lateral Sclerosis | – | 99.11 | 22 of 23 |
CFAP410 | Retinal Dystrophy, Spondylometaphyseal Dysplasia, Amyotrophic Lateral Sclerosis, Cone Rod Dystrophy | AR | – | – |
CHCHD10 | Frontotemporal Dementia, Myopathy, Spinal Muscular Atrophy, Amyotrophic Lateral Sclerosis | AD | 95.3 | 22 of 30 |
CHMP2B | Amyotrophic Lateral Sclerosis, Frontotemporal And Semantic Dementia, Aphasia | AD | 99.99 | 22 of 22 |
DAO | Amyotrophic Lateral Sclerosis | – | 100 | 12 of 12 |
DCTN1 | Amyotrophic Lateral Sclerosis, Neuronopathy , Parkinsonism, Perry Syndrome | AD,AR | 100 | 56 of 56 |
EPHA4 | Amyotrophic Lateral Sclerosis | – | 99.98 | 5 of 5 |
ERBB4 | Amyotrophic Lateral Sclerosis | AD | 100 | 13 of 14 |
FIG4 | Amyotrophic Lateral Sclerosis, Charcot-Marie-Tooth Disease, Cleidocranial Dysplasia, Polymicrogyria, Yunis-Varon Syndrome | AD,AR | 99.92 | 72 of 72 |
FUS | Amyotrophic Lateral Sclerosis, Frontotemporal Dementia, Myxoid Cell Liposarcoma | AD | 100 | 117 of 117 |
GBE1 | Glycogen Storage Disease, Polyglucosan Body Disease | AR | 99.95 | 71 of 74 |
GLE1 | Congenital Arthrogryposis, Anterior Horn Cell Disease, Lethal Congenital Contracture Syndrome, Amyotrophic Lateral Sclerosis | AR | 100 | 17 of 17 |
GLT8D1 | Amyotrophic Lateral Sclerosis | – | 100 | 7 of 7 |
GRN | Ceroid Lipofuscinosis, Progressive Non- Fluent Aphasia, Frontotemporal And Semantic Dementia | AD,AR | 100 | 220 of 229 |
HEXA | Tay-Sachs Disease | AR | 100 | 205 of 206 |
HNRNPA1 | Amyotrophic Lateral Sclerosis, Inclusion Body Myopathy, Paget Disease, Frontotemporal Dementia | AD | 99.98 | 13 of 13 |
HNRNPA2B1 | Inclusion Body Myopathy, Paget Disease, Frontotemporal Dementia | – | 99.98 | 5 of 6 |
HSPD1 | Leukodystrophy, Spastic Paraplegiainant | AD,AR | 100 | 7 of 7 |
KIF5A | Amyotrophic Lateral Sclerosis, Myoclonus, Spastic Paraplegia | AD | 100 | 85 of 85 |
MAPT | Frontotemporal And Semantic Dementia, Parkinson Disease, Supranuclear Palsy, Aphasia, Gait Freezing Syndrome | AD,AR | 97.65 | 110 of 111 |
MATR3 | Amyotrophic Lateral Sclerosis, Vocal Cord And Pharyngeal Distal Myopathy | AD | 99.98 | 21 of 21 |
NEFH | Amyotrophic Lateral Sclerosis, Charcot- Marie-Tooth Disease | AD,AR | 97.5 | 28 of 31 |
NEK1 | Amyotrophic Lateral Sclerosis, Short Rib- Polydactyly Syndrome, Orofaciodigital Syndrome | AD,AR,MU,D | 99.83 | 73 of 74 |
OPTN | Amyotrophic Lateral Sclerosis, Glaucoma | AD,AR | 97.02 | 68 of 68 |
PFN1 | Amyotrophic Lateral Sclerosis | AD | 80.25 | 8 of 8 |
PON1 | Amyotrophic Lateral Sclerosis | – | 100 | 8 of 8 |
PON2 | Amyotrophic Lateral Sclerosis | – | 99.98 | 3 of 3 |
PON3 | Amyotrophic Lateral Sclerosis | – | 100 | 3 of 3 |
PPARGC1A | Amyotrophic Lateral Sclerosis | – | 99.88 | 6 of 6 |
PRF1 | Aplastic Anemia, Hemophagocytic Lymphohistiocytosis, Lymphoma Non-Hodgkin | AR | 99.99 | 196 of 196 |
PRPH | Amyotrophic Lateral Sclerosis | AD,AR | 100 | 10 of 10 |
PSEN1 | Acne Inversa, Alzheimer Disease, Cardiomyopathy, Frontotemporal And Semantic Dementia, Pick Disease Of Brain | AD | 100 | 326 of 332 |
REEP1 | Neuronopathy, Spastic Paraplegia | AD | 100 | 62 of 62 |
SETX | Amyotrophic Lateral Sclerosis, Spinocerebellar Ataxia | AD,AR | 99.71 | 219 of 227 |
SIGMAR1 | Amyotrophic Lateral Sclerosis, Spinal Muscular Atrophy | AR | 100 | 20 of 20 |
SLC52A2 | Brown-Vialetto-Van Laere Syndrome, Spinocerebellar Ataxia-Blindness- Deafness Syndrome | AR | 100 | 31 of 32 |
SLC52A3 | Bulbar Palsy | AR | 100 | 43 of 43 |
SOD1 | Amyotrophic Lateral Sclerosis, Spastic Tetraplegia And Axial Hypotonia | AD,AR | 100 | 217 of 221 |
SPART | Spastic Paraplegia | AR | 99.9 | – |
SPAST | Spastic Paraplegia | AD | 99.98 | 616 of 655 |
SPG11 | Amyotrophic Lateral Sclerosis, Charcot- Marie-Tooth Disease, Spastic Paraplegia | AR | 99.93 | 289 of 297 |
SQSTM1 | Frontotemporal And Semantic Dementia, Amyotrophic Lateral Sclerosis, Myopathy, Neurodegeneration, Dystonia, Gaze Palsy, Paget Disease Of Bone | AD,AR | 99.25 | 105 of 107 |
TAF15 | Chondrosarcoma, Amyotrophic Lateral Sclerosis | – | 95.53 | 13 of 13 |
TARDBP | Amyotrophic Lateral Sclerosis, Frontotemporal Dementia | AD | 90.84 | 71 of 74 |
TBK1 | Encephalopathy, Frontotemporal Dementia, Amyotrophic Lateral Sclerosis, Herpes Simplex Virus Encephalitis | AD | 99.91 | 141 of 142 |
TIA1 | Welander Distal Myopathy | AD,AR | 100 | 13 of 13 |
TREM2 | Polycystic Lipomembranous Osteodysplasia, Sclerosing Leukoencephalopathy, Amyotrophic Lateral Sclerosis, Frontotemporal And Semantic Dementia, Alzheimer Disease, Nasu-Hakola Disease | AD | 100 | 55 of 55 |
TRPM7 | Amyotrophic Lateral Sclerosis, Parkinsonism | AD | 99.59 | 6 of 6 |
TUBA4A | Amyotrophic Lateral Sclerosis, Frontotemporal Dementia | AD | 99.97 | 13 of 13 |
UBQLN2 | Amyotrophic Lateral Sclerosis, Frontotemporal Dementia | X,XD,G | 99.78 | – |
UNC13A | Amyotrophic Lateral Sclerosis | – | 99.41 | 12 of 12 |
VAPB | Amyotrophic Lateral Sclerosis, Spinal Muscular Atrophy | AD | 100 | 9 of 9 |
VCP | Amyotrophic Lateral Sclerosis, Charcot-Marie- Tooth Disease, Inclusion Body Myopathy, Paget Disease, Frontotemporal and Semantic Dementia, Spastic Paraplegia | AD | 100 | 68 of 69 |
WASHC5 | Dandy-Walker- Like Malformation, Spastic Paraplegia, 3c Syndrome | AD,AR | 99.99 | – |