GENE
|
OMIM DISEASES
|
INHERITANCE*
|
% GENE COVERAGE (20X)
|
HGMD**
|
AARS1
|
Charcot-Marie- Tooth Disease, Epileptic Encephalopathy
|
AD,AR
|
99.07
|
30 of 30
|
AGPAT2
|
Berardinelli-Seip Congenital Lipodystrophy
|
AR
|
100
|
42 of 43
|
AIFM1
|
Combined Oxidative Phosphorylation Deficiency, Cowchock Syndrome, Deafness, Spondyloepimetaphyseal Dysplasia, Leukoencephalopathy, Charcot-Marie-Tooth Disease
|
X,XR,G
|
100
|
–
|
APOA1
|
Amyloidosis, Apolipoprotein A-I Deficiency
|
AD
|
99.89
|
68 of 70
|
ASAH1
|
Farber Lipogranulomatosis, Spinal Muscular Atrophy, Myoclonic Epilepsy
|
AR
|
99.98
|
69 of 70
|
ATL1
|
Neuropathy, Spastic Paraplegia
|
AD
|
100
|
93 of 93
|
ATL3
|
Neuropathy
|
AD
|
99.91
|
5 of 5
|
ATP1A1
|
Charcot-Marie-Tooth Disease, Hypomagnesemia, Seizures, Mental Retardation
|
AD
|
100
|
16 of 16
|
ATP7A
|
Cutis Laxa, Menkes Disease, Spinal Muscular Atrophy, Occipital Horn Syndrome
|
X,XR,G
|
99.83
|
–
|
BAG3
|
Cardiomyopathy, Myopathy
|
AD
|
100
|
83 of 85
|
BICD2
|
Spinal Muscular Atrophy
|
AD
|
99.94
|
39 of 39
|
BSCL2
|
Encephalopathy, Lipodystrophy, Neuronopathy, Spastic Paraplegia, Neurodegenerative Syndrome
|
AD,AR
|
99.83
|
60 of 61
|
CHCHD10
|
Frontotemporal Dementia, Amyotrophic Lateral Sclerosis, Myopathy, Spinal Muscular Atrophy
|
AD
|
95.3
|
22 of 30
|
COX6A1
|
Charcot-Marie-Tooth Disease
|
AR
|
100
|
1 of 1
|
CYP27A1
|
Cerebrotendinous Xanthomatosis
|
AR
|
100
|
118 of 118
|
CYP7B1
|
Bile Acid Synthesis Defect, Spastic Paraplegia
|
AR
|
99.95
|
70 of 70
|
DCTN1
|
Amyotrophic Lateral Sclerosis, Neuronopathy, Parkinsonism, Alveolar Hypoventilation, Mental Depression, Perry Syndrome
|
AD,AR
|
100
|
56 of 56
|
DHTKD1
|
2-Aminoadipic 2-Oxoadipic Aciduria, Charcot-Marie- Tooth Disease
|
AD,AR
|
99.94
|
25 of 25
|
DNAJB2
|
Spinal Muscular Atrophy
|
AR
|
99.97
|
4 of 5
|
DNM2
|
Charcot-Marie-Tooth Disease, Lethal Congenital Contracture Syndrome, Myopathy
|
AD,AR
|
99
|
57 of 57
|
DNMT1
|
Cerebellar Ataxia, Deafness, Narcolepsy, Neuropathy, Autosomal Dominant Cerebellar Ataxia- Deafness-Narcolepsy Syndrome
|
AD
|
97.87
|
30 of 30
|
DRP2
|
Charcot-Marie-Tooth Disease, Neuronopathy, Neuropathy
|
–
|
99.98
|
–
|
DST
|
Epidermolysis Bullosa Simplex, Neuropathy
|
AR
|
99.08
|
19 of 19
|
DYNC1H1
|
Charcot-Marie-Tooth Disease, Spinal Muscular Atrophy, Intellectual Disability
|
AD
|
100
|
104 of 104
|
EGR2
|
Charcot-Marie-Tooth Disease, Hypertrophic Neuropathy Of Dejerine- Sottas
|
AD,AR
|
100
|
23 of 23
|
ELP1
|
Neuropathy, Familial Dysautonomia
|
AR
|
100
|
–
|
EXOSC9
|
Pontocerebellar Hypoplasia
|
AR
|
99.86
|
2 of 2
|
FBLN5
|
Cutis Laxa, Neuropathy
|
AD,AR
|
97.43
|
23 of 23
|
FBXO38
|
Neuronopathy
|
AD
|
99.87
|
6 of 6
|
FGD4
|
Charcot-Marie- Tooth Disease
|
AR
|
99.95
|
30 of 30
|
FIG4
|
Amyotrophic Lateral Sclerosis, Charcot-Marie- Tooth Disease, Cleidocranial Dysplasia, Micrognathia, Polymicrogyria, Yunis- Varon Syndrome
|
AD,AR
|
99.92
|
72 of 72
|
GAN
|
Giant Axonal Neuropathy
|
AR
|
100
|
75 of 75
|
GARS1
|
Charcot-Marie-Tooth Disease, Neuronopathy
|
AD
|
100
|
46 of 46
|
GDAP1
|
Charcot-Marie-Tooth Disease
|
AD,AR
|
100
|
106 of 106
|
GJB1
|
Charcot-Marie-Tooth Disease
|
X,XR,XD,G
|
100
|
–
|
GLA
|
Fabry Disease
|
X,XR,G
|
98
|
–
|
GNB4
|
Charcot-Marie-Tooth Disease
|
AD
|
100
|
5 of 5
|
GSN
|
Amyloidosis
|
AD
|
96.69
|
16 of 17
|
HARS1
|
Charcot-Marie-Tooth Disease, Usher Syndrome
|
AD,AR
|
100
|
–
|
HEXA
|
Tay-Sachs Disease
|
AR
|
100
|
205 of 206
|
HINT1
|
Neuromyotonia, Axonal Neuropathy
|
AR
|
99.94
|
19 of 19
|
HK1
|
Hemolytic Anemia, Neurodevelopmental Disorder, Visual Defects, Brain Anomalies, Neuropathy, Retinitis Pigmentosa, Charcot- Marie-Tooth Disease
|
AD,AR
|
100
|
14 of 17
|
HMBS
|
Porphyria
|
AD
|
100
|
469 of 479
|
HSPB1
|
Charcot-Marie-Tooth Disease, Neuronopathy
|
AD
|
99.96
|
45 of 46
|
HSPB8
|
Charcot-Marie-Tooth Disease, Neuronopathy
|
AD
|
97.59
|
9 of 9
|
IGHMBP2
|
Charcot-Marie-Tooth Disease, Spinal Muscular Atrophy
|
AR
|
99.94
|
141 of 142
|
INF2
|
Charcot-Marie-Tooth Disease, Glomerulosclerosis
|
AD
|
99.91
|
79 of 79
|
JPH1
|
Charcot-Marie-Tooth Disease
|
AD,AR
|
99.59
|
1 of 1
|
KARS1
|
Charcot-Marie-Tooth Disease, Deafness
|
AR
|
100
|
34 of 34
|
KIF1A
|
Mental Retardation, Neuropathy, Spastic Paraplegia, Peho Syndrome
|
AD,AR
|
100
|
76 of 76
|
KIF1B
|
Charcot-Marie-Tooth Disease, Neuroblastoma, Pheochromocytoma, Paraganglioma
|
AD
|
99.89
|
17 of 17
|
KIF5A
|
Amyotrophic Lateral Sclerosis, Myoclonus, Spastic Paraplegia
|
AD
|
100
|
85 of 85
|
LITAF
|
Charcot-Marie-Tooth Disease
|
AD
|
90.74
|
18 of 18
|
LMNA
|
Cardiomyopathy, Charcot- Marie-Tooth Disease, Emery-Dreifuss Muscular Dystrophy, Heart-Hand Syndrome, Hutchinson- Gilford Progeria Syndrome, Lipodystrophy, Malouf Syndrome, Mandibuloacral Dysplasia, Restrictive Dermopathy, Werner Syndrome, Hypergonadotropic Hypogonadism
|
AD,AR
|
100
|
619 of 620
|
LRSAM1
|
Charcot-Marie-Tooth Disease
|
AD,AR
|
100
|
18 of 18
|
MARS1
|
Charcot-Marie-Tooth Disease, Interstitial Lung And Liver Disease, Spastic Paraplegia
|
AD,AR
|
99.98
|
19 of 19
|
MCM3AP
|
Peripheral Neuropathy, Impaired Intellectual Development
|
AR
|
99.96
|
22 of 22
|
MED25
|
Basel-Vanagaite-Smirin- Yosef Syndrome, Charcot- Marie-Tooth Disease, Intellectual Disability, Cataract, Microcephaly
|
AR
|
100
|
5 of 5
|
MFN2
|
Charcot-Marie-Tooth Disease, Hereditary Motor And Sensory Neuropathy, Lipomatosis
|
AD,AR
|
100
|
233 of 233
|
MME
|
Charcot-Marie-Tooth Disease, Spinocerebellar Ataxia, Membranous Nephropathy
|
AD,AR
|
100
|
33 of 33
|
MORC2
|
Charcot-Marie-Tooth Disease
|
AD
|
100
|
20 of 20
|
MPV17
|
Charcot-Marie-Tooth Disease, Mitochondrial Dna Depletion Syndrome
|
AR
|
100
|
48 of 49
|
MPZ
|
Charcot-Marie-Tooth Disease, Hypertrophic Neuropathy Of Dejerine- Sottas, Neuropathy, Roussy-Levy Hereditary Areflexic Dystasia
|
AD,AR
|
99.98
|
245 of 245
|
MTMR2
|
Charcot-Marie-Tooth Disease
|
AR
|
100
|
34 of 34
|
NAGLU
|
Charcot-Marie-Tooth Disease, Mucopolysaccharidosis
|
AD,AR
|
93.23
|
194 of 222
|
NDRG1
|
Charcot-Marie-Tooth Disease
|
AR
|
100
|
11 of 11
|
NEFH
|
Amyotrophic Lateral Sclerosis, Charcot- Marie-Tooth Disease
|
AD,AR
|
97.5
|
28 of 31
|
NEFL
|
Charcot-Marie-Tooth Disease
|
AD,AR
|
–
|
–
|
NGF
|
Neuropathy
|
AR
|
100
|
5 of 5
|
NTRK1
|
Insensitivity To Pain, Neuropathy
|
AR
|
100
|
128 of 130
|
PDK3
|
Charcot-Marie-Tooth Disease
|
X,XD,G
|
99.7
|
–
|
PLEKHG5
|
Charcot-Marie-Tooth Disease, Spinal Muscular Atrophy
|
AR
|
99.98
|
14 of 14
|
PMP2
|
Charcot-Marie-Tooth Disease
|
AD
|
99.74
|
5 of 5
|
PMP22
|
Charcot-Marie-Tooth Disease, Deafness, Hypertrophic Neuropathy Of Dejerine-Sottas, Neuropathy, Roussy- Levy Hereditary Areflexic Dystasia, Demyelinating Polyradiculoneuropathy
|
AD,AR
|
97.82
|
110 of 110
|
PNKP
|
Ataxia-Oculomotor Apraxia, Charcot-Marie- Tooth Disease, Epileptic Encephalopathy
|
AR
|
100
|
36 of 36
|
POLG
|
Mitochondrial Dna Depletion Syndrome, External Ophthalmoplegia, Sensory Ataxic Neuropathy, Dysarthria, Ophthalmoparesis, Alpers-Huttenlocher Syndrome, Neurogastrointestinal Encephalomyopathy
|
AD,AR
|
99.92
|
325 of 326
|
POLG2
|
Mitochondrial Dna Depletion Syndrome, External Ophthalmoplegia
|
AD,AR
|
99.97
|
13 of 13
|
PRDM12
|
Neuropathy
|
AR
|
88.85
|
9 of 10
|
PRPS1
|
Arts Syndrome, Charcot- Marie-Tooth Disease, Deafness, Phosphoribosylpyrophosphate Synthetase Superactivity, Lethal Ataxia, Optic Atrophy, Intellectual Disability, Limb Spasticity, Retinal Dystrophy
|
X,XR,G
|
100
|
–
|
PRX
|
Charcot-Marie-Tooth Disease, Hypertrophic Neuropathy Of Dejerine- Sottas
|
AD,AR
|
100
|
59 of 59
|
RAB7A
|
Charcot-Marie-Tooth Disease
|
AD
|
100
|
7 of 7
|
REEP1
|
Neuronopathy, Spastic Paraplegia, Distal Hereditary Motor Neuropathy
|
AD
|
100
|
62 of 62
|
RETREG1
|
Neuropathy
|
AR
|
99.94
|
–
|
SBF1
|
Charcot-Marie-Tooth Disease
|
AR
|
99.94
|
19 of 19
|
SBF2
|
Charcot-Marie-Tooth Disease
|
AR
|
99.98
|
44 of 44
|
SCN11A
|
Neuropathy, Paroxysmal Extreme Pain Disorder, Primary Erythromelalgia
|
AD
|
99.8
|
21 of 23
|
SCN9A
|
Erythermalgia, Epilepsy, Indifference To Pain, Neuropathy, Extreme Pain Disorder, Dravet Syndrome
|
AD,AR
|
96.25
|
126 of 137
|
SCO2
|
Cardioencephalomyopathy , Myopia, Charcot-Marie- Tooth Disease, Leigh Syndrome
|
AD,AR
|
100
|
38 of 38
|
SEPTIN9
|
Neuralgic Amyotrophy
|
AD
|
86.94
|
4 of 4
|
SH3TC2
|
Charcot-Marie-Tooth Disease, Mononeuropathy Of The Median Nerve
|
AD,AR
|
99.95
|
114 of 114
|
SIGMAR1
|
Amyotrophic Lateral Sclerosis, Spinal Muscular Atrophy
|
AR
|
100
|
20 of 20
|
SLC12A6
|
Neuropathy, Corpus Callosum Agenesis
|
AR
|
100
|
21 of 21
|
SLC25A46
|
Neuropathy
|
AR
|
99.79
|
16 of 17
|
SLC52A2
|
Brown-Vialetto-Van Laere Syndrome, Spinocerebellar Ataxia, Blindness, Deafness
|
AR
|
100
|
31 of 32
|
SLC52A3
|
Bulbar Palsy
|
AR
|
100
|
43 of 43
|
SLC5A7
|
Myasthenic Syndrome, Neuronopathy
|
AD,AR
|
99.92
|
21 of 21
|
SMN1
|
Spinal Muscular Atrophy
|
AR
|
5.2
|
17 of 91
|
SPG11
|
Amyotrophic Lateral Sclerosis, Charcot-Marie-Tooth Disease, Spastic Paraplegia
|
AR
|
99.93
|
289 of 297
|
SPICE1
|
Microcephaly
|
–
|
99.73
|
–
|
SPTLC1
|
Neuropathy
|
AD
|
99.81
|
12 of 12
|
SPTLC2
|
Neuropathy
|
AD
|
100
|
18 of 18
|
SURF1
|
Charcot-Marie-Tooth Disease, Leigh Syndrome, Cardiomyopathy, Leukodystrophy
|
AR,MI
|
98.59
|
117 of 124
|
TFG
|
Hereditary Motor And Sensory Neuropathy, Spastic Paraplegia
|
AD,AR
|
99.67
|
9 of 9
|
TRIM2
|
Charcot-Marie-Tooth Disease
|
AR
|
97.87
|
8 of 8
|
TRPV4
|
Avascular Necrosis Of Femoral Head, Brachyrachia, Digital Arthropathy, Brachydactyly, Sensory Neuropathy, Parastremmatic Dwarfism, Spinal Muscular Atrophy, Spondyloepiphyseal Dysplasia, Brachyolmia
|
AD
|
100
|
88 of 88
|
TTR
|
Carpal Tunnel Syndrome, Amyloidosis
|
AD
|
100
|
195 of 196
|
UBA1
|
Spinal Muscular Atrophy
|
X,XR,G
|
99.58
|
–
|
VAPB
|
Amyotrophic Lateral Sclerosis, Spinal Muscular Atrophy
|
AD
|
100
|
9 of 9
|
VCP
|
Amyotrophic Lateral Sclerosis, Charcot-Marie- Tooth Disease, Inclusion Body Myopathy, Frontotemporal Dementia, Paget Disease Of Bone, Aphasia, Spastic Paraplegia
|
AD
|
100
|
68 of 69
|
VRK1
|
Pontocerebellar Hypoplasia
|
AR
|
99.64
|
15 of 15
|
WNK1
|
Neuropathy, Pseudohypoaldosteronism
|
AD,AR
|
99.45
|
44 of 50
|
YARS1
|
Charcot-Marie-Tooth Disease
|
AD
|
100
|
15 of 15
|