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
|
–
|