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

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
Spinocerebellar ataxia 1 - (AD)
13.1
2063871
7951322
8170557
8358429
857157
ATXN1 (6p22.3)
Ataxin 1
* Spinocerebellar ataxia 1 - SCA1
* Olivopontocerebellar atrophy I - OPCA1
Spinocerebellar ataxia 2 - (AD)
13.2
1971152
8358438
8896555
8896556
8896557
ATXN2 (12q24.12)
Ataxin 2
* Spinocerebellar ataxia 2 - SCA2
* Olivopontocerebellar atrophy II - OPCA
* Amyotrophic lateral sclerosis 13 - ALS13
Spinocerebellar ataxia 3 (Machado-Joseph disease) - (AD)
13.3
7874163
8279460
8358439
ATXN3 (14q32.12)
Ataxin 3
* Machado-Joseph disease - MJD
* Spinocerebellar ataxia 3 - SCA3
Spinocerebellar ataxia 4 - (AD)
13.4
12796826
8755926
? - (16q22.1)
* Spinocerebellar ataxia 4 - SCA4
Spinocerebellar ataxia 5 - (AD)
13.5
16429157
7874171
SPTBN2 (11q13.2)
Spectrin, Beta, Nonerythrocytic, 2
* Spinocerebellar ataxia 5 - SCA5
* Spinocerebellar ataxia, autosomal recessive 14 - SCAR14
Spinocerebellar ataxia 6 - (AD)
13.6
8988170
9302278
CACNA1A (19p13.13)
Calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
* Spinocerebellar ataxia 6 - SCA6
* Cerebellar ataxia, paroxymal, acetazolamide-responsive - CAPA
* Cerebellar ataxia, pure - CACNA1A
* Acetazolamide-responsive hereditary paroxymal cerebellar ataxia - APCA
* Episodic ataxia, type 2 - EA2
Spinal cerebellarataxia 7 (olivopontocerebellar atrophy III) - (AD)
13.7
7647798
7647799
9425222
ATXN7 (3p14)
Ataxin 7
* Spinocerebellar ataxia 7 - SCA7
* Olivopontocerebellar atrophy III - OPCA3
Spinocerebellar ataxia 8 - (AD)
13.8
10192387
ATXN8OS (13q21.33)
Ataxin 8 opposite strand
* Spinocerebellar ataxia 8 - SCA8
Spinocerebellar ataxia 10 - (AD)
13.9
9973298
ATXN10 (22q13.31)
Ataxin 10
* Spinocerebellar ataxia 10 - SCA10
Spinocerebellar ataxia 11 - (AD)
13.10
10417284
18037885
TTBK2 (15q15.2)
Tau tubulin kinase 2
* Spinocerebellar ataxia 11 - SCA11
Spinocerebellar ataxia 12 - (AD)
13.11
10581021
11198281
PPP2R2B (5q32)
Protein phosphatase 2 regulatory subunit B, beta isoform
* Spinocerebellar ataxia 12 - SCA12
Spinocerebellar ataxia 13 - (AD)
13.12
10820125
16501573
KCNC3 (19q13.33)
Potassium voltage-gated channel, Shaw-related subfamily, member 3
* Spinocerebellar ataxia 13 - SCA13
Spinocerebellar ataxia 14 - (AD)
13.13
10939565
12644968
15313841
PRKCG (19q13.42)
Protein kinase C, gamma
* Spinocerebellar ataxia 14 - SCA14
Spinocerebellar ataxia 15 - (AD)
13.14
12828938
17590087
ITPR1 (3p26.1)
Inositol 1,4,5-triphosphate receptor type 1
* Spinocerebellar ataxia 15 - SCA15
Spinocerebellar ataxia 17 (Huntington disease-like) - (AD)
13.15
10484774
11313753
TBP (6q27)
TATA box binding protein
* Spinocerebellar ataxia 17 - SCA17
Spinocerebellar ataxia 18 - (AD)
13.16
11992570
19409521
IFRD1 (7q31.1)
Interferon-related developmental regulator 1
* Spinocerebellar ataxia 18 - SCA18
Spinocerebellar ataxia 19 - (AD)
13.17
12384780
14679032
23280837
23280838
KCND3 (1p13.2)
Potassium voltage-gated channel, Shal-related subfamily, member 3
* Spinocerebellar ataxia 19 - SCA19
* Brugada syndrome 9 - BRGDA9
Spinocerebellar ataxia 20 - (AD)
13.18
14998916
? - (11q12.2-11q12.3)
* Spinocerebellar ataxia 20 - SCA20
Spinocerebellar ataxia 21 - (AD)
13.19
12402269
25070513
TMEM240 (1p36.33)
Transmembrane protein 240
* Spinocerebellar ataxia 19 - SCA21
Spinocerebellar ataxia 22 - (AD)
13.20
12764052
? - (1p21-q23)
* Spinocerebellar ataxia 21 - SCA22
Spinocerebellar ataxia 23 - ( AD)
13.21
15306549
21035104
PDYN (20p13-p12-3)
Prodynorphin
* Spinocerebellar ataxia 23 - SCA23
Spinocerebellar ataxia 25 - (AD)
13.22
14705117
? - (2p21-p13)
* Spinocerebellar ataxia 25 - SCA25
Spinocerebellar ataxia 26 - (AD)
13.23
15732118
23001565
EEF2 (19p13.3)
Eukaryotic translation elongation factor 2
* Spinocerebellar ataxia 26 - SCA26
Spinocerebellar ataxia 27 - ( )
13.24
12489043
15470364
FGF14 (13q34)
Fibroblast growth factor 14
* Spinocerebellar ataxia 27 - SCA27
Spinocerebellar ataxia 28 - (AD)
13.25
16251216
20208537
AFG3L2 (18p11-q11)
AFG3 ATPase family gene 3-like 2 (S. cerevisiae) 1(M)
* Spinocerebellar ataxia 28 - SCA28
* Spastic ataxia 5 autosomal recessive - SPAX5
Spinocerebellar ataxia 29, congenital nonprogressive - (AD)
13.26
15623688
? - (3p26)
* Cerebellar ataxia, congenital, nonprogressive, autosomal dominant - SCA29
Spinocerebellar ataxia 30 - (AD)
13.27
18996908
? - (4q34.3-q35.1)
* Spinocerebellar ataxia 30 - SCA30
Spinocerebellar ataxia 31 - (AD)
13.28
10822439
19878914
BEAN1 (16q21)
Brain expressed, associated with Nedd42
TK2 (16q22-q23)
Thymidine kinase 2, mitochondrial(M)
* spinocerebellar ataxia-31 - SCA31
* Mitochondrial dna depletion syndrome, myopathic form - MTDPS3
* Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 3 - PEOB3
Spinocerebellar ataxia 32 (with azoospermia) - (AD)
13.29
Abstract
? - (7q32-q33)
* Spinocerebellar ataxia 32 - SCA32
Spinocerebellar ataxia 34 - (AD)
13.30
24566826
ELOVL4 (6q14.1)
ELOVL fatty acid elongase 4
* Spinocerebellar ataxia 34 - SCA34
Spinocerebellar ataxia 35 - (AD)
13.31
21106500
22554020
TGM6 (20p13)
Transglutaminase 6
* Spinocerebellar ataxia 35 - SCA35
Spinocerebellar ataxia 36 - (AD)
13.32
21683323
NOP56 (20p13)
NOP56 ribonucleoprotein
* Spinocerebellar ataxia 31 - SCA36
Spinocerebellar ataxia 37 - (AD)
13.33
23700170
? - (1p32)
* Spinocerebellar ataxia 37 - SCA37
Spinocerebellar ataxia 38 - (AD)
13.34
25065913
ELOVL5 (6p12.1)
ELOVL fatty acid elongase 5
* Spinocerebellar ataxia 38 - SCA38
Spinocerebellar ataxia 40 - (AD)
13.35
25062847
CCDC88C (14q32.11)
Coiled-coil domain containing 88C
* Spinocerebellar ataxia 40 - SCA40
Spinocerebellar ataxia 41 - (AD)
13.36
25477146
TRPC3 (4q27)
Transient receptor potential cation channel subfamily C member 3
* Spinocerebellar ataxia 41 - SCA41
Spinocerebellar ataxia 42 - (AD)
13.37
26456284
26715324
CACNA1G (17q21.33)
calcium voltage-gated channel subunit alpha1 G
* Spinocerebellar ataxia 42 - SCA42
* Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits - SCA42ND
Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits - (AD)
13.38
29878067
CACNA1G (17q21.33)
calcium voltage-gated channel subunit alpha1 G
* Spinocerebellar ataxia 42 - SCA42
* Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits - SCA42ND
Spinocerebellar Ataxia, type 43 - (AD)
13.39
27583304
MME (3q25.2)
Membrane metallo-endopeptidase
* Charcot-Marie-Tooth neuropathy Type 2T - CMT2T
* Spinocerebellar Ataxia, type 43 - SCA43
Spinocerebellar ataxia 44 - (AD)
13.40
28886343
GRM1 (6q24.3)
Glutamate receptor metabotropic, 1
* Spinocerebellar ataxia 44 - SCA44
* Spinocerebellar ataxia, autosomal recessive 13 - SCAR13
Spinocerebellar ataxia 45 - (AD)
13.41
29053796
FAT2 (5q33.1)
Fat tumor suppressor, Drosophila, Homologh of, 2
* Spinocerebellar ataxia 45 - SCA45
Spinocerebellar ataxia 46 - (AD)
13.42
29053796
PLD3 (19q13.2)
Phospholipase D family, member 3
* Spinocerebellar ataxia 46 - SCA46
Spinocerebellar ataxia 47 - (AD)
13.43
29474920
PUM1 (1p35.2)
Pumilio, Drosophila, Homologh of, 1
* Spinocerebellar ataxia 47 - SCA47
Spinocerebellar ataxia 48 - (AD)
13.44
30381368
STUB1 (16p13.3)
STIP1 homology and U-box containing protein 1
* Spinocerebellar ataxia, autosomal recessive 16 - SCAR16
* Spinocerebellar ataxia 48 - SCA48
Episodic ataxia type-2 ,and familial hemiplegic migraine - (AD)
13.45
17575281
8898206
9302278
CACNA1A (19p13.13)
Calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
* Spinocerebellar ataxia 6 - SCA6
* Cerebellar ataxia, paroxymal, acetazolamide-responsive - CAPA
* Cerebellar ataxia, pure - CACNA1A
* Acetazolamide-responsive hereditary paroxymal cerebellar ataxia - APCA
* Episodic ataxia, type 2 - EA2
Episodic ataxia type-3 - (AD)
13.46
11673600
17575281
? - (1q42)
* episodic ataxia type-3 - EA3
Episodic ataxia type-5 - (AD)
13.47
10762541
CACNB4 (2q22-q23)
Calcium channel, voltage-dependent, beta 4 subunit
* episodic ataxia type 5, included - EA5
Episodic ataxia type-6 - (AD)
13.48
16116111
19139306
SLC1A3 (5p13)
EAAT1 (excitatory amino acid transporter type 1)
* episodic ataxia type 6 - EA6
Episodic ataxia type-7 - (AD)
13.49
17502476
? - (19q13)
* episodic ataxia type-7 - EA7
Acetazolamide responsive hereditary paroxysmal cerebellar ataxia - (AD)
13.50
7695228
7757080
CACNA1A (19p13.13)
Calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
* Spinocerebellar ataxia 6 - SCA6
* Cerebellar ataxia, paroxymal, acetazolamide-responsive - CAPA
* Cerebellar ataxia, pure - CACNA1A
* Acetazolamide-responsive hereditary paroxymal cerebellar ataxia - APCA
* Episodic ataxia, type 2 - EA2
Friedreich ataxia 1 - (AR)
13.51
10543403
2899844
8596916
FXN (9q13-q21.1)
Frataxin(M)
* Friedreich ataxia - FRDA
* Friedreich ataxia with retained reflexes - FARR
Friedreich ataxia 2 - (AR)
13.52
11523563
? - (9p23-p11)
* friedreich ataxia 2 - FRDA2
Friedreich ataxia with selective vitamin E deficiency - (AR)
13.53
7566022
7719340
8252047
TTPA (8q13.1-q13.3)
Tocopherol (alpha) transfer protein (ataxia (Friedreich-like) with vitamin E deficiency)
* Ataxia, Friedreich-like, with selective vitamin E deficiency - AVED
* Ataxia with isolated vitamin E deficiency - TTPA
Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) - (AR)
13.54
16135556
9027505
TWNK (10q23.-q24.1)
Twinkle mtDNA helicase
* Spinocerebellar ataxia, infantile-onset, with sensory neuropathy - IOSCA
* Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal - PEO3A
Early onset ataxia with oculomotor apraxia and hypoalbunemia - (AR)
13.55
11586299
11586300
APTX (9p13.3)
Aprataxin
* Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia - EAOH
Autosomal recessive spinocerebellar ataxia, 3 - (AR)
13.56
11175288
? - (6p23-p21)
* Spinocerebellar ataxia, autosomal recessive 3 - SCAR3
Autosomal recessive spinocerebellar ataxia, 4 - (AR)
13.57
29518281
29604224
Abstract
VPS13D (1p36.22-p36.21)
Vacuolar protein sorting 37, Yeast, homolg of, A
* Spinocerebellar ataxia, autosomal recessive 4 - SCAR4
Galloway-Mowat syndrome 1 - (AR)
13.58
12030328
WDR73 (15q24-q26)
WD Repeat-Containing Protein 73
* Galloway-Mowat syndrome 1 - GAMOS1
Autosomal recessive spinocerebellar ataxia, 6 - (AR)
13.59
12811539
? - (20q11-q13)
* Spinocerebellar ataxia, autosomal recessive 6 - SCAR6
Autosomal recessive spinocerebellar ataxia, 7 - (AR)
13.60
15520412
TPP1 (11p15.4)
Tripeptidyl peptidase I
* Spinocerebellar ataxia, autosomal recessive 7 - SCAR7
Autosomal recessive spinocerebellar ataxia, 8 - (AR)
13.61
17159980
SYNE1 (6q25)
Spectrin repeat containing, nuclear envelope 1 (nesprin 1)
* Dilated cardiomyopathy related to nesprin-1
* Spinocerebellar ataxia, autosomal recessive 8 - SCAR8
* Emery-dreifuss muscular dystrophy 4 - EDMD4
* Arthrogryposis multiplex congenita with nesprin-1 defect - AMCM
Autosomal recessive spinocerebellar ataxia, 9 (with ubiquinone deficiency) - (AR)
13.62
18319072
18319074
ADCK3 (1q42.13)
Coenzyme Q8A
* spinocerebellar ataxia, autosomal recessive 9 - SCAR9
* Autosomal recessive spinocerebellar ataxia, 9 with ubiquinone deficiency - SCAR9
Spinocerebellar ataxia, autosomal recessive 10 - (AR)
13.63
21092923
ANO10 (3p22.1-p21.3)
Anoctamin 10
* Spinocerebellar ataxia, autosomal recessive 10 - SCAR10
Spinocerebellar ataxia, autosomal recessive 11 - (AR)
13.64
21835308
SYT14 (1q32.2)
Synaptotagmin 14
* Spinocerebellar ataxia, autosomal recessive 11 - SCAR11
Spinocerebellar ataxia, autosomal recessive 12 - (AR)
13.65
24369382
WWOX (16q23.1-q23.2)
WW Domain-Containing Oxidoreductase
* Spinocerebellar ataxia, autosomal recessive 12 - SCAR12
Spinocerebellar ataxia, autosomal recessive 13 - (AR)
13.66
22901947
GRM1 (6q24.3)
Glutamate receptor metabotropic, 1
* Spinocerebellar ataxia 44 - SCA44
* Spinocerebellar ataxia, autosomal recessive 13 - SCAR13
Spinocerebellar ataxia, autosomal recessive 14 - (AR)
13.67
23236289
SPTBN2 (11q13.2)
Spectrin, Beta, Nonerythrocytic, 2
* Spinocerebellar ataxia 5 - SCA5
* Spinocerebellar ataxia, autosomal recessive 14 - SCAR14
Spinocerebellar ataxia, autosomal recessive 15 - (AR)
13.68
20826435
RUBCN (3q29)
RUN domain and cysteine-rich domain containing, Beclin 1-interacting protein
* Spinocerebellar ataxia, autosomal recessive 15 - SCAR15
Spinocerebellar ataxia, autosomal recessive 16 - (AR)
13.69
24113144
24719489
STUB1 (16p13.3)
STIP1 homology and U-box containing protein 1
* Spinocerebellar ataxia, autosomal recessive 16 - SCAR16
* Spinocerebellar ataxia 48 - SCA48
Spinocerebellar ataxia, autosomal recessive 17 - (AR)
13.70
25361784
CWF19L1 (10q24.31)
CWF19-like Protein 1
* Spinocerebellar ataxia, autosomal recessive 17 - SCAR17
Spinocerebellar ataxia, autosomal recessive 18 - (AR)
13.71
23611888
24078737
GRID2 (4q22.1)
Glutamate receptor, ionotropic, delta 2
* Spinocerebellar ataxia, autosomal recessive 18 - SCAR18
Spinocerebellar ataxia, autosomal recessive 19 (Lichtenstein-Knorr syndrome) - (AR)
13.72
25205112
SLC9A1 (1p36.11)
Solute carrier family 9, member 1
* Spinocerebellar ataxia, autosomal recessive 19 - SCAR19
Spinocerebellar ataxia, autosomal recessive 20 - (AR)
13.73
25439728
SNX14 (6q14.3)
sorting nexin 14
* Spinocerebellar ataxia, autosomal recessive 20 - SCAR20
Spinocerebellar ataxia, autosomal recessive 21 - (AR)
13.74
26581903
SCYL1 (11q13.1)
SCY1 like pseudokinase 1
* Spinocerebellar ataxia, autosomal recessive 21 - SCAR21
Spinocerebellar ataxia, autosomal recessive 22 - (AR)
13.75
26157035
VWA3B (2q11.2)
Von Willebrand factor A domain Containing Protein 3B
* Spinocerebellar ataxia, autosomal recessive 22 - SCAR22
Spinocerebellar ataxia, autosomal recessive 23 - (AR)
13.76
24658003
TDP2 (6p22.3)
Tyrosyl-DNA phosphodiesterase 2
* Spinocerebellar ataxia, autosomal recessive 23 - SCAR23
Spinocerebellar ataxia, autosomal recessive 24 - (AR)
13.77
26872069
UBA5 (3q22.1)
Ubiquitin-Like Modifier Activating Enzyme 5
* Spinocerebellar ataxia, autosomal recessive 24 - SACR24
Spinocerebellar ataxia, autosomal recessive 25 - (AR)
13.78
26812546
ATG5 (6q21)
Autophagy 5, S. Cerevisiae, Homolog of
* Spinocerebellar ataxia, autosomal recessive 25 - SCAR25
Spinocerebellar ataxia, autosomal recessive 26 - (AR)
13.79
28002403
XRCC1 (19q13.31)
W-Ray Repair, Complementing Defective, In Chinese Hamster, 1
* Spinocerebellar ataxia, autosomal recessive 26 - SCAR26
Spinocerebellar ataxia, autosomal recessive 27 - (AR)
13.80
30084953
GDAP2 (1p12)
Ganglioside induced differentiation associated protein 2
* Spinocerebellar ataxia, autosomal recessive 27 - SACR27
Spinocerebellar ataxia, autosomal recessive 28 - (AR)
13.81
27307223
THG1L (5q33.3)
tRNA-histidine guanyltransferase 1-like protein
* Spinocerebellar ataxia, autosomal recessive 28 - SCAR28
Spinocerebellar ataxia with axonal neuropathy - (AR)
13.82
12244316
TDP1 (14q31-q32)
Tyrosyl-DNA phosphodiesterase 1
* spinocerebellar ataxia, autosomal recessive, with axonal neuropathy - SCAN1
Spinocerebellar ataxia with axonal neuropathy type 2 - (AR)
13.83
14770181
19696032
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
Spinocerebellar ataxia with axonal neuropathy type 3 - (AR)
13.84
29718187
COA7 (1p32.3)
Cytochrome C oxidase assembly factor 7
* Spinocerebellar ataxia with axonal neuropathy type 3 - SCAN3
Marinesco-Sjogren syndrome (cerebellar ataxia with cataract and myopathy) - (AR)
13.85
14512967
16282977
16282978
SIL1 (5q31)
SIL1 homolog, endoplasmic reticulum chaperone
* Marinesco-Sjogren syndrome - MSS
Sensory ataxic neuropathy, dysarthria and ophtalmoparesis - (AR)
13.86
14745080
16080118
POLG (15q25)
Polymerase (DNA directed), gamma(M)
* Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis - SANDO
* spinocerebellar ataxia with epilepsy, included - SCAE
* Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal - PEOA1
* Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 1 - PEOB1
* Mitochondrial DNA depletion syndrome 4B (MNGIE type) - MTDPS4B
* Mitochondrial DNA depletion syndrome 4A (Alpers type) - MTDPS4A
Ataxia telangiectasia - (AR)
13.87
3200306
7792600
ATM (11q22.3)
Ataxia telangiectasia mutated
* ataxia telangiectasia - AT
Ataxia telangiectasia-like disorder 1 - (AR)
13.88
10612394
15574463
MRE11A (11q21)
MRE11 meiotic recombination 11 homolog A
* ataxia telangiectasia-like disorder - ATLD
Ataxia telangiectasia-like disorder 2 - (AR)
13.89
24911150
PCNA (20p12.3)
Proloferating cell nuclear antigen
* Ataxia telangiectasia-like disorder 2 - ATLD2
Spastic ataxia, Charlevoix-Saguenay type - (AR)
13.90
10610707
10655055
9829277
SACS (13q12)
Sacsin
* Autosomal recessive spastic ataxia of Charlevoix-Saguenay - ARSACS
* Charcot-Marie-Tooth disease, axonal; related to SACS
* Spastic ataxia, Charlevoix-Saguenay type - SACS
* Spastic ataxia Charlevoix-Saguenay type - SPAX6
Peroxisome biogenesis disorder 9B (Refsum disease-1, adult) - (AR)
13.91
8595422
9326939
9326940
PHYH (10q13)
Phytanoyl-CoA 2-hydroxylase
* Refsum disease, adult - RD
Refsum disease-2 (adult) - (AR)
13.92
12522768
PEX7 (6q21-q22)
Peroxisomal biogenesis factor 7
* Refsum disease, adult - RD
Cerebellar ataxia and hypogonadotropic hypogonadism (Goedon Holmes syndrome) - (AR)
13.93
23656588
RNF216 (7p22.1)
Ring finger protein 216
* Cerebellar ataxia and hypogonadotropic hypogonadism (Goedon Holmes syndrome) - GDHS
Myopathy, mitochondrial and cerebellar ataxia - (AR)
13.94
28544275
MSTO1 (1q22)
Misato homolog 1 (Drosophila)(M)
* Myopathy, mitochondrial and cerebellar ataxia - MMYAT