1. Muscular dystrophies5. Other myopathies9. Metabolic myopathies13. Hereditary ataxias
2. Congenital muscular dystrophies6. Myotonic syndromes10. Hereditary cardiomyopathies14. Hereditary motor and sensory neuropathies
3. Congenital myopathies7. Ion channel muscle diseases11. Congenital myasthenic syndromes15. Hereditary paraplegias
4. Distal myopathies8. Malignant hyperthermia12. Motor neuron diseases16. Other neuromuscular disorders

12. MOTOR NEURON DISEASES (See references) - (download list of genes)
Grey lines background indicate newly added items
Disease phenotype
Item
in
this
table
Key
references
Gene symbol (chromosome)

protein
All allelic disease phenotypes - locus/disease symbols
Spinal muscular atrophy , type I (Werdnig-Hoffman ) - (AR)
12.1
1972783
7581461
7633412
7813012
7910982
SMN1 (5q13)
Survival of motor neuron 1, telomeric
* Kugelberg-Welander Syndrome - KWS
* Spinal muscular atrophy 4 - SMA4
* Spinal muscular atrophy 2 - SMA2
* Spinal muscular atrophy 3 - SMA3
* Spinal muscular atrophy 1 - SMA1
Spinal muscular atrophy, type II (intermediate) - (AR)
12.2
8733053
8882869
SMN1 (5q13)
Survival of motor neuron 1, telomeric
* Kugelberg-Welander Syndrome - KWS
* Spinal muscular atrophy 4 - SMA4
* Spinal muscular atrophy 2 - SMA2
* Spinal muscular atrophy 3 - SMA3
* Spinal muscular atrophy 1 - SMA1
Spinal muscular atrophy, type III (Kugelberg-Welander) - (AR)
12.3
1970420
2320125
7813012
SMN1 (5q13)
Survival of motor neuron 1, telomeric
* Kugelberg-Welander Syndrome - KWS
* Spinal muscular atrophy 4 - SMA4
* Spinal muscular atrophy 2 - SMA2
* Spinal muscular atrophy 3 - SMA3
* Spinal muscular atrophy 1 - SMA1
Spinal muscular atrophy, type IV, adult form - (AR)
12.4
7658877
8551862
SMN1 (5q13)
Survival of motor neuron 1, telomeric
* Kugelberg-Welander Syndrome - KWS
* Spinal muscular atrophy 4 - SMA4
* Spinal muscular atrophy 2 - SMA2
* Spinal muscular atrophy 3 - SMA3
* Spinal muscular atrophy 1 - SMA1
Spinal muscular atrophy, distal autosomal recessive 1 ( with respiratory distress) - (AR)
12.5
10521314
IGHMBP2 (11q13.2-q13.4)
Immunoglobulin mu binding protein 2
* Spinal muscular atrophy with respiratory distress - SMARD1
* Autosomal recessive CMT axonal type 2S - CMT2S
Spinal muscular atrophy, distal autosomal recessive 2 - (AR)
12.6
11117544
? - (9p21)
* spinal muscular atrophy, distal, autosomal recessive, 2 - DSMA2
Spinal muscular atrophy, distal autosomal recessive 3 - (AR)
12.7
15054395
? - (11q13)
* spinal muscular atrophy, distal, autosomal recessive, 3 - DSMA3
Spinal muscular atrophy, distal autosomal recessive 4 - (AR)
12.8
16728649
17564964
PLEKHG5 (1p36)
Pleckstrin homology domain containing, family G (with RhoGef domain) member 5
* spinal muscular atrophy, distal, autosomal recessive, 4 - DSMA4
* Axonal neuropathy intermediate recessive C - CMTRIC
Neuronopathy, distal hereditary motor, type I - (AD)
12.9
17354000
? - (7q34-q36)
* Neuronopathy, distal hereditary motor, type I - HMN1
Neuronopathy, distal hereditary motor, type IIA, juvenile - (AD)
12.10
15358725
HSPB8 (12q24.23)
Heat shock 27kDa protein 8
* Neuropathy, distal hereditary motor, type II - HMN2A
* Charcot-Marie-Tooth neuropathy Type 2L - CMT2L
Neuronopathy, distal hereditary motor, type II, adult juvenile - (AD)
12.11
15122254
HSPB1 (7q11.23)
Heat shock 27kDa protein 1
* Charcot-Marie-Tooth neuropathy Type 2F - CMT2F
* Neuropathy, distal hereditary motor, type IIB - HMN2B
Neuropathy, distal hereditary motor, type IIC - (AD)
12.12
20142617
HSPB3 (5q11.2)
Heat shock 27kDa protein 3
* neuronopathy, distal hereditary motor, type IIC - HMN2C
Dominant distal hereditary motor neuropathy - (AD)
12.13
22573628
AARS (16q22.1)
Alanyl-tRNA synthetase
* Dominant distal hereditary motor neuropathy
* Charcot-Marie-Tooth disease, axonal, type 2N - CMT2N
Distal spinal muscular atrophy, distal with upper limb predominance (type V) - (AD)
12.14
12690580
8541851
GARS (7p15)
Glycyl-tRNA synthetase
* Neuropathy, distal hereditary motor type V - HMN V
* Spinal muscular atrophy, distal, type V - DSMAV
* Charcot-Marie-Tooth disease, axonal, type 2D - CMT2D
Distal spinal muscular atrophy type V - (AD)
12.15
14981520
BSCL2 (11q12-q13.5)
Seipin
* Neuronopathy, distal hereditary motor, type V - HMN5
* Spastic paraplegia 17 - SPG17
Distal spinal muscular atrophy, type VB - (AD)
12.16
22703882
REEP1 (2p11.2)
Receptor accessory protein 1(M)
* Distal spinal muscular atrophy, type VB - DSMAVB
* Spastic paraplegia 31 - SPG31
Spinal muscular atrophy, distal, with vocal cord paralysis (Harper-Young) - (AD)
12.17
11294660
SLC5A7 (2q12.31)
Solute carrier family 5 (sodium/choline cotransporter), member 7
* Motor neuropathy, distal, with vocal cord paralysis - HMN7
* Congenital myasthenic syndrome with episodic apnea - CMS20
Distal hereditary motor neuronopathy type VIIB - (AD)
12.18
12627231
DCTN1 (2p13)
Dynactin 1
* Neuronopathy, distal hereditary motor, type VIIB - HMN7B
* Susceptibility to amyotrophic lateral sclerosis related to dynactin 1
Spinal muscular atrophy, distal, Xlinked, related to UBA1 - (XR)
12.20
18179898
UBA1 (Xp11.23)
Ubiquitin-activating enzyme 1
* Spinal muscular atrophy, distal, Xlinked, related to UBA1 - SMAX2
Spinal muscular atrophy, distal, X-linked - (XR)
12.21
14985388
20170900
ATP7A (Xq13-q21)
ATPase, Cu++ transporting, alpha polypeptide
* Spinal muscular atrophy, distal, x-linked 3 - SMAX3
Spinal muscular atrophy, distal related to DNAJB2
12.22
22522442
DNAJB2 (2q32-q34)
DnaJ (Hsp40) homolog, subfamily B, member 2
* Spinal muscular atrophy, distal related to DNAJB2
* Spinal muscular atrophy, distal, autosomal recessive, 5 - DSMA5
* Autosomal recessive CMT2 related to DNAJB2
Spinal motor neuropathy
12.23
27193168
RBM7 (11q23.2)
RNA binding motif protein 7
* Spinal motor neuropathy
Spinal muscular atrophy congenital non progressive of lower limbs - ( )
12.24
20037587
20037588
9781046
TRPV4 (12q23-q24)
Transient receptor potential cation channel, subfamily V, member 4
* Scapuloperoneal spinal muscular atrophy - SPSMA
* Spinal muscular atrophy congenital non progressive of lower limbs - SMAL
* Spinal muscular atrophy, congenital benin, with contractures - SMAL
Scapuloperoneal spinal muscular atrophy - (AD)
12.25
20037587
8872481
TRPV4 (12q23-q24)
Transient receptor potential cation channel, subfamily V, member 4
* Scapuloperoneal spinal muscular atrophy - SPSMA
* Spinal muscular atrophy congenital non progressive of lower limbs - SMAL
* Spinal muscular atrophy, congenital benin, with contractures - SMAL
Spinal muscular atrophy, lower extremity, autosomal dominant - (AD)
12.26
20697106
22459677
DYNC1H1 (14q32.31)
Dynein, cytoplasmic 1, heavy chain 1
* Charcot-Marie-Tooth disease, axonal, type 20 - CMT2O
* Spinal muscular atrophy, lower extremity, autosomal dominant - SMALED
Spinal muscular atrophy, lower extremity, autosomal dominant 2 - (AD)
12.27
23664116
23664119
23664120
BICD2 (9q22.31)
Bicaudal D homolog 2 (Drosophila)
* Spinal muscular atrophy, lower extremity, autosomal dominant 2 - SMALED2
Distal Spinal Muscular Atrophy with Calf Predominance - (AD)
12.28
24207122
FBXO38 (5q32)
F-box protein 38
* Distal Spinal Muscular Atrophy with Calf Predominance - HMN2D
Spinal muscular atrophy with progressive myoclonic epilepsy - (AR)
12.29
22703880
ASAH1 (8p22)
N-acylsphingosine amidohydrolase (acid ceramidase) 1
* Spinal muscular atrophy with progressive myoclonic epilepsy - SMAPME
Spinal muscular atrophy, late-onset, Finkel type - (AD)
12.30
15060112
VAPB (7p15)
Vesicle-associated membrane protein-associated protein B and C
* Spinal muscular atrophy, late-onset, Finkel type
* Amyotrophic lateral sclerosis - ALS8
early-onset proximal spinal muscular atrophy, lower extremity, autosomal dominant - (AD)
12.31
20697106
? - (14q)
* Autosomal dominant early-onset proximal spinal muscular atrophy
late-onset spinal motor neuronopathy, Jokela type - (AD)
12.32
22535186
25113787
CHCHD10 (22q11.2-q13.2)
Coiled-coil-helix-coiled-coil-helix domain containing 10(M)
* Amyotrophic lateral sclerosis and/or frontotemporal dementia - FTDALS2
* Mitochondrial myopathy
* late-onset spinal motor neuronopathy, Jokela type - SMAJ
Spinal muscular atrophy and cerebellar hypoplasia - (AR)
12.33
24989451
EXOSC8 (13q13.1)
Exosome component 8
* Spinal muscular atrophy and cerebellar hypoplasia
Spinal muscular atrophy with congenital bone fractures 1 - (AR)
12.34
26924529
TRIP4 (15q22.31)
thyroid hormone receptor interactor 4
* Muscular dystrophy, congenital Davignon-Chauveau type - MDCD
* Spinal muscular atrophy with congenital bone fractures 1 - SMABF1
Spinal muscular atrophy with congenital bone fractures 2 - (AR)
12.35
26924529
ASCC1 (10q22.1)
activating signal cointegrator 1 complex subunit 1
* Spinal muscular atrophy with congenital bone fractures 2 - SMABF2
Familial myotrophic lateral sclerosis 1 (dominant) - (AD)
12.36
2020294
8446170
8875253
SOD1 (21q22.1)
Superoxide dismutase 1, soluble
* Amyotrophic lateral sclerosis 1 - ALS1
* Amyotrophic lateral sclerosis, due to SOD1 deficiency - ALS
Familial amyotrophic lateral sclerosis 1 (recessive) - (AR)
12.37
7647793
SOD1 (21q22.1)
Superoxide dismutase 1, soluble
* Amyotrophic lateral sclerosis 1 - ALS1
* Amyotrophic lateral sclerosis, due to SOD1 deficiency - ALS
Amyotrophic lateral sclerosis 2 juvenile - (AR)
12.38
7920663
ALS2 (2q33.2)
Alsin
* Spastic paralysis, infantile onset ascending - IAHSP
* Amyotrophic lateral sclerosis, juvenile - ALS2
* Primary lateral sclerosis, juvenile - PLSJ
Amyotrophic lateral sclerosis 3 - (AR)
12.39
11706389
? - (18q21)
* Amyotrophic lateral sclerosis - ALS3
Amyotrophic lateral sclerosis 4 - (AD)
12.40
15106121
9497266
SETX (9q34.13)
Senataxin
* ATAXIA-oculomotor apraxia 2 - AOA2
* Neuropathy, distal hereditary motor, with pyramidal features - ALS4
* Spinocerebellar ataxia, autosomal recessive 1 - SCAR1
Amyotrophic lateral sclerosis 5 - (AD)
12.41
20110243
9933301
SPG11 (15q21.1)
Spatacsin
* Spastic paraplegia 11 - SPG11
* Amyotrophic lateral sclerosis 5 - ALS5
* Charcot-Marie-Tooth neuropathy Type 2X - CMT2X
Amyotrophic lateral sclerosis 6 - (AD)
12.44
12830400
12858291
19251627
19251628
FUS (16q12)
Fusion (involved in t(12;16) in malignant liposarcoma)
* Amyotrophic lateral sclerosis - ALS6
Amyotrophic lateral sclerosis 7 - (AD)
12.45
12858291
? - (20p13)
* Amyotrophic lateral sclerosis - ALS7
Amyotrophic lateral sclerosis 8 - (AD)
12.46
15060112
15372378
VAPB (7p15)
Vesicle-associated membrane protein-associated protein B and C
* Spinal muscular atrophy, late-onset, Finkel type
* Amyotrophic lateral sclerosis - ALS8
Amyotrophic lateral sclerosis 9 - (AD)
12.47
16501576
17886298
ANG (14q11.2)
Angiogenin
* amyotrophic lateral sclerosis 9 - ALS9
Amyotrophic lateral sclerosis 10, with or without frontotemporal dementia - (AD)
12.48
18309045
TARDBP (1p36.2)
TAR DNA binding protein
* amyotrophic lateral sclerosis 10 - ALS10
Amyotrophic lateral sclerosis 11 - (AD)
12.49
19118816
FIG4 (6q21)
Sac domain-containing inositol phosphatase 3
* charcot-marie-tooth disease, type 4j - CMT4J
* Amyotrophic lateral sclerosis 11 - ALS11
Amyotrophic lateral sclerosis 12 - (AD, AR)
12.50
20428114
OPTN (10p14)
Optineurin
* Amyotrophic lateral sclerosis 12 - ALS12
Amyotrophic lateral sclerosis 13
12.51
20740007
21562247
21670397
ATXN2 (12q24.1)
Ataxin 2
* Spinocerebellar ataxia 2 - SCA2
* Olivopontocerebellar atrophy II - OPCA
* Amyotrophic lateral sclerosis 13 - ALS13
Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia - (AD)
12.52
21145000
VCP (9p13-p12)
Valosin-containing protein
* Distal myopathy related to VCP - IBMPFD
* Inclusion body myopathy with early-onset paget disease and frontotemporal dement - IBMPFD
* Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia - ALS14
* Scapuloperoneal muscular dystrophy and dropped head syndrome
Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia - (AD)
12.53
21857683
UBQLN2 (Xp11.21)
Ubiquilin 2
* Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia - ALS15
Amyotrophic lateral sclerosis 16, juvenile - (AR)
12.54
21842496
SIGMAR1 (9p13.3)
Sigma non-opioid intracellular receptor 1
* Amyotrophic lateral sclerosis 16, juvenile - ALS16
Amyotrophic lateral sclerosis 17 - (AD)
12.55
16807408
20352044
CHMP2B (3p11.2)
Charged multivesicular body protein 2B
* Amyotrophic lateral sclerosis 17 - ALS17
Amyotrophic lateral sclerosis 18 - (AD)
12.56
22801503
PFN1 (17p13.2)
Profilin 1
* Amyotrophic lateral sclerosis 18 - ALS18
Amyotrophic lateral sclerosis 20 - (AD)
12.57
23455423
HNRNPA1 (12q13.13)
heterogeneous nuclear ribonucleoprotein A1
* Isolated inclusion body myopathy - IBMPFD3
* Amyotrophic lateral sclerosis 20 - ALS20
Familial amyotrophic lateral sclerosis - (AD)
12.58
24686783
MATR3 (5q31)
Matrin 3
* Vocal cord and pharyngeal distal myopathy - VCPDM
* Familial amyotrophic lateral sclerosis - ALS21
Susceptibility to amyotrophic lateral sclerosis related to NEFH - (AD)
12.59
9931323
NEFH (22q12.2)
Neurofilament, heavy polypeptide
* Susceptibility to amyotrophic lateral sclerosis related to NEFH - ALSDC
Susceptibility to amyotrophic lateral sclerosis related to peripherin - (AD)
12.60
15322088
15446584
PRPH (12q13.12)
Peripherin
* Susceptibility to amyotrophic lateral sclerosis related to peripherin
Susceptibility to amyotrophic lateral sclerosis related to dynactin 1 - (AD)
12.61
16240349
DCTN1 (2p13)
Dynactin 1
* Neuronopathy, distal hereditary motor, type VIIB - HMN7B
* Susceptibility to amyotrophic lateral sclerosis related to dynactin 1
Amyotrophic lateral sclerosis and/or frontotemporal dementia - (AD)
12.62
16421333
21944778
C9orf72 (9p21.2)
Chromosome 9 open reading frame 72
* Amyotrophic lateral sclerosis and/or frontotemporal dementia - FTDALS
Amyotrophic lateral sclerosis and/or frontotemporal dementia - (AD)
12.63
24934289
CHCHD10 (22q11.2-q13.2)
Coiled-coil-helix-coiled-coil-helix domain containing 10(M)
* Amyotrophic lateral sclerosis and/or frontotemporal dementia - FTDALS2
* Mitochondrial myopathy
* late-onset spinal motor neuronopathy, Jokela type - SMAJ
Amyotrophic lateral sclerosis and/or frontotemporal dementia - (AD)
12.64
22084127
SQSTM1 (5q35.3)
Sequestosome 1
* Amyotrophic lateral sclerosis and/or frontotemporal dementia - FTDALS3
Kennedy disease - (XR)
12.65
2062380
3466055
AR (Xq11.2-q12)
Androgen receptor
* Spinal and bulbar muscular atrophy of Kennedy - SBMA
* Kennedy disease - KD
Lethal Congenital Contracture Syndrome 1 - (AR)
12.66
18204449
9683599
GLE1 (9q34.11)
GLE1 RNA export mediator homolog (yeast)
* Lethal congenital contracture syndrome 1 - LCCS1
Lethal Congenital Contracture Syndrome 2 - (AR)
12.67
17701904
ERBB3 (12q13)
V-erb-b2 erythroblastic leukemia viral oncogene homolog 3 (avian)
* Lethal congenital contracture syndrome 2 - LCCS2
Lethal Congenital Contracture Syndrome 3 - (AR)
12.68
17701898
PIP5K1C (19p13.3)
Phosphatidylinositol-4-phosphate 5-kinase, type I, gamma
* Lethal congenital contractural syndrome 3 - LCCS3
Spinal muscular atrophy with pontocerebellar hypoplasia, type 1b - (AR)
12.69
23284067
EXOSC3 (9p13.2)
Exosome component 3
* Spinal muscular atrophy with pontocerebellar hypoplasia, type 1b - PCH1B
Spinal muscular atrophy with pontocerebellar hypoplasia - (AR)
12.70
19646678
VRK1 (14q32)
Vaccinia related kinase 1
* Pontocerebellar hypoplasia type 1 - PCH1
* Complex motor and sensory axonal neuropathy plus microcephaly and cerebral dysge
Brown-Vialetto-van Laere syndrome 1 - (AR)
12.71
20206331
21110228
22740598
SLC52A3 (20p13)
Solute carrier family 52, riboflavin transporter, member 3
* Brown-Vialetto-Van Laere syndrome 1 - BVVLS1
Brown-Vialetto-van Laere syndrome 2 - (AR)
12.72
20206331
21110228
22740598
SLC52A2 (8q24)
Solute carrier family 52, riboflavin transporter, member 2
* Brown-Vialetto-Van Laere syndrome 2 - BVVLS2
Late onset spinal muscular atrophy related to HEXB - (AD)
12.73
23886397
HEXB (5q13.3)
Hexosaminidase B
* Late onset spinal muscular atrophy related to HEXB