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. Spinal muscular atrophies motoneuron diseases16. Other neuromuscular disorders

12. SPINAL MUSCULAR ATROPHIES MOTONEURON DISEASES (See references) - (download list of genes)
Spinal muscular atrophy related to SMN1
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
Proximal spinal muscular atrophy
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Disease phenotype
Item
in
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table
Key
references
Gene symbol (chromosome)

protein
All allelic disease phenotypes - locus/disease symbols
Spinal muscular atrophy with congenital bone fractures 1 - (AR)
12.5
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)
12.6
26924529
ASCC1 (10q22.1)
Activating signal cointegrator 1 complex subunit 1
* Spinal muscular atrophy with congenital bone fractures 2 - SMABF2
* Arthrogryposis related to ASCC1
Spinal muscular atrophy with progressive myoclonic epilepsy - (AR)
12.7
22703880
ASAH1 (8p22)
N-acylsphingosine amidohydrolase (acid ceramidase) 1
* Spinal muscular atrophy with progressive myoclonic epilepsy - SMAPME
Spinal muscular atrophy and cerebellar hypoplasia - (AR)
12.8
24989451
EXOSC8 (13q13.1)
Exosome component 8
* Spinal muscular atrophy and cerebellar hypoplasia
Pontocerebellar hypoplasia, type 1D - (AR)
12.9
29727687
EXOSC9 (4q27 )
Exosome component 9
* Pontocerebellar hypoplasia, type 1D - PCH1D
Spinal Muscular Atrophy type IV related to CAPN1 - (AR)
12.10
35126465
CAPN1 (11q13.1)
Calpain 1
* Spastic paraplegia 76, autosomal recessive - SPG76
* Spinal Muscular Atrophy type IV related to CAPN1
Scapuloperoneal spinal muscular atrophy - (AD)
12.11
20037587
8872481
TRPV4 (12q23-q24)
Transient receptor potential cation channel, subfamily V, member 4
* Scapuloperoneal spinal muscular atrophy - SPSMA
* Neuronopathy, distal hereditary motor, type VIII - HMN8
* Spinal muscular atrophy congenital non progressive of lower limbs - SMAL
* Spinal muscular atrophy, congenital benin, with contractures - SMAL
Spinal motor neuropathy
12.12
27193168
RBM7 (11q23.2)
RNA binding motif protein 7
* Spinal motor neuropathy
Distal hereditary motor neuropathy, recessive
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Disease phenotype
Item
in
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table
Key
references
Gene symbol (chromosome)

protein
All allelic disease phenotypes - locus/disease symbols
Neuropathy, distal hereditary motor, autosomal recessive 1 - (AR)
12.13
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
Neuropathy, distal hereditary motor, autosomal recessive 2 - (AR)
12.14
11117544
26078401
SIGMAR1 (9p13.3)
Sigma non-opioid intracellular receptor 1
* spinal muscular atrophy, distal, autosomal recessive, 2 - DSMA2
* Amyotrophic lateral sclerosis 16, juvenile - ALS16
Neuropathy, distal hereditary motor, autosomal recessive 3 - (AR)
12.15
15054395
? - (11q13)
* spinal muscular atrophy, distal, autosomal recessive, 3 - DSMA3
Neuropathy, distal hereditary motor, autosomal recessive 4 - (AR)
12.16
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
Neuropathy, distal hereditary motor, autosomal recessive 5
12.17
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
Neuropathy, distal hereditary motor, autosomal recessive 6
12.18
27066569
REEP1 (2p11.2)
Receptor accessory protein 1(M)
* Neuropathy, distal hereditary motor, autosomal recessive 6 - HMNR6
* Distal spinal muscular atrophy, type VB - DSMAVB
* Spastic paraplegia 31 - SPG31
* Neuronopathy, distal hereditary motor, autosomal dominant 12 - HMND12
Neuropathy, hereditary motor, autosomal recessive 7 - (AR)
12.19
33459760
33559681
VWA1 (1p36.33)
Von Willebrand factor A domain-containing protein 1
* Neuropathy, hereditary motor, with myopathic features - HMNMYO
Neuropathy, hereditary motor, autosomal recessive 8 - (AR)
12.20
32367058
SORD (15q21.1)
Sorbitol Dehydrogenase
* Sorbitol dehydrogenase deficiency with peripheral neuropathy - SORDD
* Neuropathy, hereditary motor, autosomal recessive 8 - HMNR8
Neuropathy, distal hereditary motor, autosomal recessive 9 - (AR)
12.21
36454683
36758993
37077559
COQ7 (16p12.3)
Coenzyme Q7(M)
* Coenzyme Q10 deficiency 8 - COQ10D8
* Neuropathy, distal hereditary motor, autosomal recessive 9 - HMNR9
Neuronopathy, distal hereditary motor, autosomal recessive - (AR)
12.22
27281532
30617279
VRK1 (14q32)
Vaccinia related kinase 1
* Pontocerebellar hypoplasia type 1 - PCH1
* Complex motor and sensory axonal neuropathy plus microcephaly and cerebral dysge
* Spinal muscular atrophy, distal, autosomal recessive - DSMA
Neuronopathy, Distal hereditary motor related to HINT1
12.23
24105373
HINT1 (5q23.3)
Histidine triad nucleotide binding protein 1
* Neuromyotonia and axonal neuropathy, autosomal recessive - NMAN
* Neuronopathy, Distal hereditary motor related to HINT1
Distal hereditary motor neuropathy, dominant
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Disease phenotype
Item
in
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table
Key
references
Gene symbol (chromosome)

protein
All allelic disease phenotypes - locus/disease symbols
Neuronopathy, distal hereditary motor, type I - (AD)
12.24
17354000
? - (7q34-q36)
* Neuronopathy, distal hereditary motor, type I - HMN1
Neuronopathy, distal hereditary motor, autosomal dominant 2 - (AD)
12.25
1517763
HSPB8 (12q24.23)
Heat shock 27kDa protein 8
* Neuropathy, distal hereditary motor, type II - HMN2A
* Rimmed vacuole myopathy
* Charcot-Marie-Tooth neuropathy Type 2L - CMT2L
Neuronopathy, distal hereditary motor, autosomal dominant 3 - (AD)
12.26
15122254
HSPB1 (7q11.23)
Heat shock 27kDa protein 1
* Charcot-Marie-Tooth neuropathy Type 2F - CMT2F
* Neuropathy, distal hereditary motor, type IIB - HMN2B
Neuronopathy, distal hereditary motor, autosomal dominant 4 - (AD)
12.27
20142617
HSPB3 (5q11.2)
Heat shock 27kDa protein 3
* neuronopathy, distal hereditary motor, type IIC - HMN2C
Neuronopathy, distal hereditary motor, autosomal dominant 5 - (AD)
12.28
12690580
8541851
GARS1 (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
Neuronopathy, distal hereditary motor, autosomal dominant 6 - (AD)
12.29
24207122
FBXO38 (5q32)
F-box protein 38
* Distal Spinal Muscular Atrophy with Calf Predominance - HMN2D
Neuronopathy, distal hereditary motor, autosomal dominant 7 - (ad)
12.30
11294660
SLC5A7 (2q12.31)
Solute carrier family 5 (sodium/choline cotransporter), member 7
* Neuronopathy, distal hereditary motor, type VIIA, with vocal cord paralysis (Harper-Young) - HMND7
* Congenital myasthenic syndrome with episodic apnea - CMS20
Neuronopathy, distal hereditary motor, autosomal dominant 8 - ( AD)
12.31
20037587
20037588
9781046
TRPV4 (12q23-q24)
Transient receptor potential cation channel, subfamily V, member 4
* Scapuloperoneal spinal muscular atrophy - SPSMA
* Neuronopathy, distal hereditary motor, type VIII - HMN8
* Spinal muscular atrophy congenital non progressive of lower limbs - SMAL
* Spinal muscular atrophy, congenital benin, with contractures - SMAL
Neuronopathy, distal hereditary motor, autosomal dominant 9 - (AD)
12.32
28369220
WARS (14q32.2)
Tryptophanyl-tRNA synthetase
* Neuronopathy, distal hereditary motor, type IX - HMN9
Neuronopathy, distal hereditary motor, autosomal dominant 10 - (AD)
12.33
26462740
EMILIN1 (2p23.3)
Elastin microfibril interfacer 1
* Neuronopathy, distal hereditary motor, autosomal dominant 10 - HMND10
Neuronopathy, distal hereditary motor, autosomal dominant 11 - (AD)
12.34
31332438
SPTAN1 (9q34.11)
Spectrin, alpha, nonerythrocytic 1
* Distal motor neuropathy
Neuronopathy, distal hereditary motor, autosomal dominant - (AD)
12.35
22703882
REEP1 (2p11.2)
Receptor accessory protein 1(M)
* Neuropathy, distal hereditary motor, autosomal recessive 6 - HMNR6
* Distal spinal muscular atrophy, type VB - DSMAVB
* Spastic paraplegia 31 - SPG31
* Neuronopathy, distal hereditary motor, autosomal dominant 12 - HMND12
Neuronopathy, distal hereditary motor, autosomal dominant 13 - (AD)
12.36
14981520
BSCL2 (11q12-q13.5)
Seipin
* Spastic paraplegia 17 - SPG17
* Neuronopathy, distal hereditary motor, autosomal dominant 13 - HMND13
Neuronopathy, distal hereditary motor, autosomal dominant 14 - (AD)
12.37
12627231
DCTN1 (2p13)
Dynactin 1
* Neuronopathy, distal hereditary motor, autosomal dominant 14 - HMND14
* Susceptibility to amyotrophic lateral sclerosis related to dynactin 1
Dominant distal hereditary motor neuropathy - (AD)
12.38
22573628
AARS (16q22.1)
Alanyl-tRNA synthetase
* Charcot-Marie-Tooth disease, axonal, type 2N - CMT2N
Hereditary motor and sensory neuropathy V - (AD)
12.39
18336586
? - (4q34.3-q35.2)
* Hereditary motor and sensory neuropathy V - HMSN5
Spinal muscular atrophy, lower extremity-predominant, autosomal dominant 1 - (AD)
12.40
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-predominant, autosomal dominant 2A - (AD)
12.41
23664116
23664119
23664120
BICD2 (9q22.31)
Bicaudal D homolog 2 (Drosophila)
* Spinal muscular atrophy, lower extremity, autosomal dominant 2 - SMALED2A
* Spinal muscular atrophy, lower extremity-predominant, autosomal dominant 2B - SMALED2B
* Arthrogryposis and BICD2-related neuromuscular disease
Spinal muscular atrophy, lower extremity-predominant, autosomal dominant 2B - (AD)
12.42
27751653
BICD2 (9q22.31)
Bicaudal D homolog 2 (Drosophila)
* Spinal muscular atrophy, lower extremity, autosomal dominant 2 - SMALED2A
* Spinal muscular atrophy, lower extremity-predominant, autosomal dominant 2B - SMALED2B
* Arthrogryposis and BICD2-related neuromuscular disease
Spinal muscular atrophy, late-onset, Finkel type - (AD)
12.43
15060112
VAPB (7p15)
Vesicle-associated membrane protein-associated protein B and C
* Spinal muscular atrophy, late-onset, Finkel type - SMAFK
* Amyotrophic lateral sclerosis - ALS8
Spinal muscular atrophy, Jokela type - (AD)
12.44
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
* late-onset spinal motor neuronopathy, Jokela type - SMAJ
Neuronopathy, Distal hereditary motor related to SYT2 - (AD)
12.45
30533528
SYT2 (1q32.1)
Synaptotagmin II
* Myasthenic syndrome, presynaptic, congenital, with or without motor neuropathy - MYSPC
* Distal motor neuropathy related to SYT2
* Myasthenic syndrome, congenital, 7B, presynaptic - CMS7B
* Myasthenic syndrome, congenital, 7, presynaptic and distal motor neuropathy, autosomal dominant - CMS7A
Neuronopathy, Distal hereditary motor related to GBF1 - (AD)
12.46
32937143
GBF1 (10q24.32)
Golgi-specific brefeldin-A resistance factor 1
* Distal hereditary motor neuropathies
* Charcot-Marie-Tooth disease, dominant intermediate A - CMT2GG
Spinal muscular atrophy X linked
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Disease phenotype
Item
in
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Key
references
Gene symbol (chromosome)

protein
All allelic disease phenotypes - locus/disease symbols
Spinal and bulbar muscular atrophy, X-linked, 1 (Kennedy disease) - (XR)
12.47
2062380
3466055
AR (Xq11.2-q12)
Androgen receptor
* Spinal and bulbar muscular atrophy of Kennedy - SBMA
* Kennedy disease - KD
Spinal muscular atrophy, distal, X-linked, 2 - (XR)
12.48
18179898
UBA1 (Xp11.23)
Ubiquitin-activating enzyme 1
* Spinal muscular atrophy, distal, Xlinked, related to UBA1 - SMAX2
* Spinal muscular atrophy, distal, X-linked, 2
Spinal muscular atrophy, distal, X-linked, 3 - (XR)
12.49
14985388
20170900
ATP7A (Xq13-q21)
ATPase, Cu++ transporting, alpha polypeptide
* Spinal muscular atrophy, distal, x-linked 3 - SMAX3
Spinal muscular atrophy with respiratory distress (SMARD) - (XR)
12.50
35627110
LAS1L (Xq12)
Las1-like ribosome biogenesis factor
* Spinal muscular atrophy with respiratory distress (SMARD)
Amyotrophic lateral sclerosis (ALS)
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Disease phenotype
Item
in
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table
Key
references
Gene symbol (chromosome)

protein
All allelic disease phenotypes - locus/disease symbols
Amyotrophic lateral sclerosis 1 (dominant) - (AD)
12.51
2020294
8446170
8875253
SOD1 (21q22.1)
Superoxide dismutase 1, soluble
* Amyotrophic lateral sclerosis 1 - ALS1
* Amyotrophic lateral sclerosis, due to SOD1 deficiency - ALS
Amyotrophic lateral sclerosis 1 (recessive) - (AR)
12.52
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)
12.53
7920663
ALS2 (2q33.2)
Alsin Rho guanine nucleotide exchange factor 2
* Spastic paralysis, infantile onset ascending - IAHSP
* Amyotrophic lateral sclerosis, juvenile - ALS2
* Primary lateral sclerosis, juvenile - PLSJ
Amyotrophic lateral sclerosis 3 - (AR)
12.54
11706389
? - (18q21)
* Amyotrophic lateral sclerosis - ALS3
Amyotrophic lateral sclerosis 4 - (AD)
12.55
15106121
9497266
SETX (9q34.13)
Senataxin
* Neuropathy, distal hereditary motor, with pyramidal features - ALS4
* Spinocerebellar ataxia, autosomal recessive 1 - SCAR1
* Spinocerebellar ataxia with axonal neuropathy type 2 - SCAN2
Amyotrophic lateral sclerosis 5 - (AD)
12.56
20110243
9933301
SPG11 (15q21.1)
SPG11 vesicle trafficking associated, Spatacsin
* Spastic paraplegia 11 - SPG11
* Charcot-Marie-Tooth neuropathy Type 2X - CMT2X
* Amyotrophic lateral sclerosis 5 - ALS5
Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia - (AD)
12.57
12830400
12858291
19251627
19251628
FUS (16q12)
Fusion (involved in t(12;16) in malignant liposarcoma)
* Amyotrophic lateral sclerosis - ALS6
Amyotrophic lateral sclerosis 7 - (AD)
12.58
12858291
? - (20p13)
* Amyotrophic lateral sclerosis - ALS7
Amyotrophic lateral sclerosis 8 - (AD)
12.59
15060112
15372378
VAPB (7p15)
Vesicle-associated membrane protein-associated protein B and C
* Spinal muscular atrophy, late-onset, Finkel type - SMAFK
* Amyotrophic lateral sclerosis - ALS8
Amyotrophic lateral sclerosis 9 - (AD)
12.60
16501576
17886298
ANG (14q11.2)
Angiogenin
* amyotrophic lateral sclerosis 9 - ALS9
Amyotrophic lateral sclerosis 10, with or without frontotemporal dementia - (AD)
12.61
18309045
TARDBP (1p36.2)
TAR DNA binding protein
* amyotrophic lateral sclerosis 10 - ALS10
Amyotrophic lateral sclerosis 11 - (AD)
12.62
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, with or without frontotemporal dementia - (AD, AR)
12.63
20428114
OPTN (10p14)
Optineurin
* Amyotrophic lateral sclerosis 12 - ALS12
Amyotrophic lateral sclerosis 13, susceptibility to - (AD)
12.64
20740007
21562247
21670397
ATXN2 (12q24.12)
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)
12.65
21145000
VCP (9p13-p12)
Valosin-containing protein
* Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 - IBMPFD1
* 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
* Charcot-Marie-Tooth neuropathy Type 2Y - CMT2Y
Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia - (AD)
12.66
21857683
UBQLN2 (Xp11.21)
Ubiquilin 2
* Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia - ALS15
Amyotrophic lateral sclerosis 16, juvenile - (AR)
12.67
21842496
SIGMAR1 (9p13.3)
Sigma non-opioid intracellular receptor 1
* spinal muscular atrophy, distal, autosomal recessive, 2 - DSMA2
* Amyotrophic lateral sclerosis 16, juvenile - ALS16
Amyotrophic lateral sclerosis 17 - (AD)
12.68
16807408
20352044
CHMP2B (3p11.2)
Charged multivesicular body protein 2B
* Amyotrophic lateral sclerosis 17 - ALS17
Amyotrophic lateral sclerosis 18 - (AD)
12.69
22801503
PFN1 (17p13.2)
Profilin 1
* Amyotrophic lateral sclerosis 18 - ALS18
Amyotrophic lateral sclerosis 19 - (AD)
12.70
24119685
ERBB4 (2q34)
V-ERB-B2 Avian Erythroblastic Leukemia Viral Oncogene Homolog 4
* Amyotrophic lateral sclerosis 19 - ALS19
Amyotrophic lateral sclerosis 20 - (AD)
12.71
23455423
HNRNPA1 (12q13.13)
Heterogeneous nuclear ribonucleoprotein A1
* Isolated inclusion body myopathy - IBMPFD3
* Amyotrophic lateral sclerosis 20 - ALS20
Amyotrophic lateral sclerosis 21 - (AD)
12.72
24686783
MATR3 (5q31)
Matrin 3
* Vocal cord and pharyngeal distal myopathy - VCPDM
* Familial amyotrophic lateral sclerosis - ALS21
Amyotrophic lateral sclerosis 22, with or wothout frontotemporal dementia - (AD)
12.73
25374358
TUBA4A (2q35)
Tubulin, Alpha-4A
* Amyotrophic lateral sclerosis 22 - ALS22
Amyotrophic lateral sclerosis 23 - (AD)
12.74
28469040
ANXA11 (10q23.3)
Annexin A11
* Amytrophic lateral sclerosis 23 - ALS23
* Inclusion body myopathy and brain white matter abnormalities - IBMWMA
Amyotrophic lateral sclerosis 24, susceptibility to
12.75
26945885
27455347
NEK1 (4q33)
Never in motosis gene A-related kinase 1
* Amyotrophic lateral sclerosis, susceptibility to, 24 - ALS24
Amyotrophic lateral sclerosis 25, susceptibility to - (AD)
12.76
29566793
KIF5A (12q13.13)
Kinesin family member 5A
* Spastic paraplegia 10 - SPG10
* CMT2 related to KIF5A
* Amyotrophic lateral sclerosis 25, susceptibility to - ALS25
Amyotrophic lateral sclerosis 28 - (AD)
12.77
37339631
LRP12 (8q22.3)
Low density lipoprotein receptor-related protein 12
* Oculopharyngodistal myopathy 1 - OPDM1
* Amyotrophic lateral sclerosis 28 - ALS28
Susceptibility to amyotrophic lateral sclerosis related to NEFH - (AD)
12.78
9931323
NEFH (22q12.2)
Neurofilament, heavy polypeptide
* Susceptibility to amyotrophic lateral sclerosis related to NEFH - ALSDC
* Charcot-Marie-Tooth disease, axonal, type 2CC - CMT2CC
Amyotrophic lateral sclerosis related to peripherin, susceptibility to - (AD)
12.79
15322088
15446584
PRPH (12q13.12)
Peripherin
* Susceptibility to amyotrophic lateral sclerosis related to peripherin
Amyotrophic lateral sclerosis related to dynactin 1, susceptibility to - (AD)
12.80
16240349
DCTN1 (2p13)
Dynactin 1
* Neuronopathy, distal hereditary motor, autosomal dominant 14 - HMND14
* Susceptibility to amyotrophic lateral sclerosis related to dynactin 1
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 - (AD)
12.81
16421333
21944778
C9orf72 (9p21.2)
Chromosome 9 open reading frame 72
* Amyotrophic lateral sclerosis and/or frontotemporal dementia - FTDALS
* Spinobulbar muscular atrophy (SBMA)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 - (AD)
12.82
24934289
CHCHD10 (22q11.2-q13.2)
Coiled-coil-helix-coiled-coil-helix domain containing 10(M)
* Amyotrophic lateral sclerosis and/or frontotemporal dementia - FTDALS2
* late-onset spinal motor neuronopathy, Jokela type - SMAJ
Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 - (AD)
12.83
22084127
SQSTM1 (5q35.3)
Sequestosome 1
* Amyotrophic lateral sclerosis and/or frontotemporal dementia - FTDALS3
* Myopathy, distal, with rimmed vacuoles - DMRV
* Welander-like distal myopathy
Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 - (AD)
12.84
25700176
25803835
TBK1 (12q14.2)
Tank-binding kinase 1
* Amyotrophic lateral sclerosis and/or frontotemporal dementia - FTDALS4
Amyotrophic lateral sclerosis - (AD)
12.85
32690342
LRP10 (14q11.2)
Low Density Lipoprotein Receptor-Related Protein 10
* Amyotrophic lateral sclerosis
Amyotrophic lateral sclerosis - (AD)
12.86
34059824
SPTLC1 (9q22.2)
Serine palmitoyltransferase subunit 1
* Neuropathy, hereditary sensory, type 1 - HSN1
* Neuropathy, hereditary sensory and autonomic, type 1 - HSAN1
* Amyotrophic lateral sclerosis
Others
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
Lethal Congenital Contracture Syndrome 1 - (AR)
12.87
18204449
9683599
GLE1 (9q34.11)
GLE1 RNA export mediator homolog (yeast)
* Lethal congenital contracture syndrome 1 - LCCS1
Lethal Congenital Contracture Syndrome 2 - (AR)
12.88
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)
12.89
17701898
PIP5K1C (19p13.3)
Phosphatidylinositol-4-phosphate 5-kinase, type I, gamma
* Lethal congenital contractural syndrome 3 - LCCS3
Lethal Congenital Contracture Syndrome 4 - (AR)
12.90
22610851
MYBPC1 (12q23.2)
Myosin-binding proteinC, slow type
* Arthrogryposis, distal, type 1B - DA1B
* Lethal Congenital Contracture Syndrome 4 - LCCS4
* Congenital myopathy 16 - CMYP16
Lethal Congenital Contracture Syndrome 5 - (AR)
12.91
23092955
DNM2 (19p13.2)
Dynamin 2
* Charcot-Marie-Tooth disease, dominant intermediate B - CMTDIB
* Myopathy centronuclear, 1 - CNM1
* Lethal Congenital Contracture Syndrome 5 - LCCS5
Lethal Congenital Contracture Syndrome 6 - (AR)
12.92
25055871
ZBTB42 (14q32.33)
Zinc finger and BTB domain-containing protein 42
* Lethal Congenital Contracture Syndrome 6 - LCCS6
Lethal Congenital Contracture Syndrome 7 - (AR)
12.93
24319099
28254648
CNTNAP1 (17q21.2)
Contactin-Associated Protein 1
* Lethal congenital contracture syndrome 7 - LCCS7
* Charcot-Marie Tooth disease related to CNTNAP1
Lethal Congenital Contracture Syndrome 8 - (AR)
12.94
24319099
31846058
ADCY6 (12q13.12)
Adenylate cyclase 6
* Lethal Congenital Contracture Syndrome 8 - LCCS8
Lethal Congenital Contracture Syndrome 9 - (AR)
12.95
26004201
ADGRG6 (6q24.2)
Adhesion G protein-coupled recptor G6
* Lethal Congenital Contracture Syndrome 9 - LCCS9
Lethal Congenital Contracture Syndrome 10 - (AR)
12.96
26908619
NEK9 (14q24.3)
Never in mitosis gene A-related kinase 9
* Lethal Congenital Contracture Syndrome 10 - LCCS10
Lethal Congenital Contracture Syndrome 11 - (AR)
12.97
27616481
GLDN (15q21.2)
Gliomedin
* Lethal Congenital Contracture Syndrome 11 - LCCS11
Lethal Congenital Contracture Syndrome related to TTN - (AR)
12.98
29575618
TTN (2q31)
Titin
* Hereditary myopathy with early respiratory failure - HMERF
* Cardiomyopathy, familial hypertrophic, 9 - CMH9
* Congenital myopathy with fatal cardiomyopathy
* Cardiomyopathy, dilated, 1G - CMD1G
* Centronuclear myopathy related to TTN
* LGMDR10 (Formerly LGMD2J)
* Lethal Congenital Contracture Syndrome related to TTN
* Congenital myopathy 5 with cardiomyopathy (formerly Salih myopathy) - CMYP5 (SALMY)
* Autosomal dominant myopathy with proximal muscle weakness and early respiratory
* Tibial muscular dystrophy, tardive - TMD
* Limb girdle muscular dystrophy 2J (autosomal recessive) - LGMD2J
Spinal muscular atrophy with pontocerebellar hypoplasia, type 1b - (AR)
12.99
23284067
EXOSC3 (9p13.2)
Exosome component 3
* Spinal muscular atrophy with pontocerebellar hypoplasia, type 1b - PCH1B
Spinal muscular atrophy with pontocerebellar hypoplasia - (AR)
12.100
19646678
VRK1 (14q32)
Vaccinia related kinase 1
* Pontocerebellar hypoplasia type 1 - PCH1
* Complex motor and sensory axonal neuropathy plus microcephaly and cerebral dysge
* Spinal muscular atrophy, distal, autosomal recessive - DSMA
Pontocerebellar hypoplasia with spinal muscular atrophy - (AR)
12.101
27543974
SLC25A46 (5q22.1)
solute carrier family 25 member 46(M)
* Neuropathy, hereditary motor and sensory, type VIB - HSMN6B
Brown-Vialetto-van Laere syndrome 1 - (AR)
12.102
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)
12.103
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)
12.104
23886397
HEXB (5q13.3)
Hexosaminidase B
* Late onset spinal muscular atrophy related to HEXB
Spinal muscular atrophy, related to PRUNE1 - (AR)
12.105
293077
PRUNE1 (1q21.3)
Prune exopolyphosphatase 1
* Spinal muscular atrophy, related to PRUNE1
Spinal muscular atrophy with pontocerebellar hypoplasia related to KIF26B - (AD)
12.106
30151950
KIF26B (1q44)
Kinesin family member 26B
* Spinal muscular atrophy with pontocerebellar hypoplasia related to KIF26B
Peripheral neuropathy, myopathy, hoarseness and hearing loss - (AD)
12.107
21480433
MYH14 (19q13.33)
Myosin, heavy chain 14, non muscle
* Peripheral neuropathy, myopathy, hoarseness and hearing loss - PNMHH
Lower motor neuron disease with respiratory failure related to MAPT - (AD)
12.108
24808015
MAPT (17q21.31 )
Microtubule associated protein Tau
* Lower motor neuron disease with respiratory failure related to MAPT
Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development - (AR)
12.109
24123876
28633435
MCM3AP (21q22.3)
Minichromosome maintenance 3-associated protein
* Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development - PNRIID
* Charcot-Marie-Tooth disease, axonal
Inclusion body myopathy and brain white matter abnormalities - (AD)
12.110
34048612
ANXA11 (10q23.3)
Annexin A11
* Amytrophic lateral sclerosis 23 - ALS23
* Inclusion body myopathy and brain white matter abnormalities - IBMWMA
Mitochondrial complex IV deficiency, nuclear type 11 - (AR)
12.111
33751098
COX20 (1q44)
Cytochrome c Oxidase Assembly Factor COX20
* Mitochondrial complex IV deficiency, nuclear type 11 - MC4DN11
Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures - (AR)
12.112
30388405
30401461
ADPRHL2 (1p34.3)
ADP-Ribosylhydrolase-Like 2
* Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures - CONDSIAS
Spinobulbar muscular atrophy (SBMA) - (AD)
12.113
35661131
C9orf72 (9p21.2)
Chromosome 9 open reading frame 72
* Amyotrophic lateral sclerosis and/or frontotemporal dementia - FTDALS
* Spinobulbar muscular atrophy (SBMA)