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 (6p23)
Ataxin 1
* Spinocerebellar ataxia 1 - SCA1
* Olivopontocerebellar atrophy I - OPCA1
Spinocerebellar ataxia 2 - (AD)
13.2
1971152
8358438
8896555
8896556
8896557
ATXN2 (12q24.1)
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 (14q24.3-q32.2)
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)
Spectrin, beta, non-erythrocytic 2
* Spinocerebellar ataxia 5 - SCA5
Spinocerebellar ataxia 6 - (AD)
13.6
8988170
9302278
CACNA1A (19p13.2-p13.1)
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 (3p21.1-p12)
Ataxin 7
* Spinocerebellar ataxia 7 - SCA7
* Olivopontocerebellar atrophy III - OPCA3
Spinocerebellar ataxia 8 - (AD)
13.8
10192387
ATXN8OS (13q21)
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 (5q31-5q32)
Protein phosphatase 2 regulatory subunit B, beta isoform
* Spinocerebellar ataxia 12 - SCA12
Spinocerebellar ataxia 13 - (AD)
13.12
10820125
16501573
KCNC3 (19q13.3-q13.4)
Potassium voltage-gated channel, Shaw-related subfamily, member 3
* Spinocerebellar ataxia 13 - SCA13
Spinocerebellar ataxia 14 - (AD)
13.13
10939565
12644968
15313841
PRKCG (19q13.4)
Protein kinase C, gamma
* Spinocerebellar ataxia 14 - SCA14
Spinocerebellar ataxia 15 - (AD)
13.14
12828938
17590087
ITPR1 (3p26.1-p25.3)
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 (7q22-q32)
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
Spinocerebellar ataxia 20 - (AD)
13.18
14998916
? - (11p13)
* 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 24 - (AD)
13.22
-
? - (1p36)
* Spinocerebellar ataxia 24 - SCA24
Spinocerebellar ataxia 25 - (AD)
13.23
14705117
? - (2p21-p13)
* Spinocerebellar ataxia 25 - SCA25
Spinocerebellar ataxia 26 - (AD)
13.24
15732118
23001565
EEF2 (19p13.3)
Eukaryotic translation elongation factor 2
* Spinocerebellar ataxia 26 - SCA26
Spinocerebellar ataxia 27 - ( )
13.25
12489043
15470364
FGF14 (13q34)
Fibroblast growth factor 14
* Spinocerebellar ataxia 27 - SCA27
Spinocerebellar ataxia 28 - (AD)
13.26
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 - (AD)
13.27
15623688
? - (3p26)
* Cerebellar ataxia, congenital, nonprogressive, autosomal dominant - SCA29
Spinocerebellar ataxia 30 - (AD)
13.28
18996908
? - (4q34.3-q35.1)
* Spinocerebellar ataxia 30 - SCA30
Spinocerebellar ataxia 31 - (AD)
13.29
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
Spinocerebellar ataxia 32 (with azoospermia) - (AD)
13.30
Abstract
? - (7q32-q33)
* Spinocerebellar ataxia 32 - SCA32
Spinocerebellar ataxia 34 - (AD)
13.31
24566826
ELOVL4 (6q14.1)
ELOVL fatty acid elongase 4
* Spinocerebellar ataxia 34 - SCA34
Spinocerebellar ataxia 35 - (AD)
13.32
21106500
22554020
TGM6 (20p13)
Transglutaminase 6
* Spinocerebellar ataxia 35 - SCA35
Spinocerebellar ataxia 36 - (AD)
13.33
21683323
NOP56 (20p13)
NOP56 ribonucleoprotein
* Spinocerebellar ataxia 31 - SCA36
Episodic ataxia type-1 , with myokimia - (AD)
13.34
17575281
7842011
8845167
KCNA1 (12p13)
Potassium voltage-gated channel, shaker-related subfamily, member 1
* Episodic ataxia with myokymia - EA1
Spinocerebellar ataxia 37 - (AD)
13.34
23700170
? - (1p32)
* Spinocerebellar ataxia 37 - SCA37
Spinocerebellar ataxia 38 - (AD)
13.35
25065913
ELOVL5 (6p12.1)
ELOVL fatty acid elongase 5
* Spinocerebellar ataxia 38 - SCA38
Spinocerebellar ataxia 40 - (AD)
13.36
25062847
CCDC88C (14q32.11)
Coiled-coil domain containing 88C
* Spinocerebellar ataxia 40 - SCA40
Spinocerebellar ataxia 41 - (AD)
13.37
25477146
TRPC3 (4q27)
transient receptor potential cation channel subfamily C member 3
* Spinocerebellar ataxia 41 - SCA41
Spinocerebellar ataxia 42 - (AD)
13.38
26456284
26715324
CACNA1G (17q21.33)
calcium voltage-gated channel subunit alpha1 G
* Spinocerebellar ataxia 42 - SCA42
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
Episodic ataxia type-2 ,and familial hemiplegic migraine - (AD)
13.40
17575281
8898206
9302278
CACNA1A (19p13.2-p13.1)
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)
13.41
11673600
17575281
? - (1q42)
* episodic ataxia type-3 - EA3
Episodic ataxia type-5 - (AD)
13.42
10762541
CACNB4 (2q22-q23)
Calcium channel, voltage-dependent, beta 4 subunit
* episodic ataxia type 5, included - EA5
Episodic ataxia type-6 - (AD)
13.43
16116111
19139306
SLC1A3 (5p13)
EAAT1 (excitatory amino acid transporter type 1)
* episodic ataxia type 6 - EA6
Episodic ataxia type-7 - (AD)
13.44
17502476
? - (19q13)
* episodic ataxia type-7 - EA7
Acetazolamide responsive hereditary paroxysmal cerebellar ataxia - (AD)
13.45
7695228
7757080
CACNA1A (19p13.2-p13.1)
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)
13.46
10543403
2899844
8596916
FXN (9q13-q21.1)
Frataxin(M)
* Friedreich ataxia - FRDA
* Friedreich ataxia with retained reflexes - FARR
Friedreich ataxia 2 - (AR)
13.47
11523563
? - (9p23-p11)
* friedreich ataxia 2 - FRDA2
Friedreich ataxia with selective vitamin E deficiency - (AR)
13.48
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
Infantile-onset spinocerebellar ataxia - (AR)
13.49
16135556
9027505
C10orf2 (10q24.31)
chromosome 10 open reading frame 2(M)
* Spinocerebellar ataxia, infantile-onset, with sensory neuropathy - IOSCA
* Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal - PEO3A
Ataxia oculomotor apraxia 1 - (AR)
13.50
11586299
11586300
APTX (9p13.3)
Aprataxin
* Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia - EAOH
Ataxia oculomotor Apraxia 2 - (AR)
13.51
14770181
SETX (9q34.13)
Senataxin
* ATAXIA-oculomotor apraxia 2 - AOA2
* Neuropathy, distal hereditary motor, with pyramidal features - ALS4
* Spinocerebellar ataxia, autosomal recessive 1 - SCAR1
Autosomal recessive spinocerebellar ataxia, 3 - (AR)
13.52
11175288
? - (6p23-p21)
* Spinocerebellar ataxia, autosomal recessive 3 - SCAR3
Autosomal recessive spinocerebellar ataxia, 4 - (AR)
13.53
Abstract
? - (1p36)
* Spinocerebellar ataxia, autosomal recessive 4 - SCAR4
Autosomal recessive spinocerebellar ataxia, 5 - (AR)
13.54
12030328
? - (15q24-q26)
* Spinocerebellar ataxia, autosomal recessive 5 - SCAR5
Autosomal recessive spinocerebellar ataxia, 6 - (AR)
13.55
12811539
? - (20q11-q13)
* Spinocerebellar ataxia, autosomal recessive 6 - SCAR6
Autosomal recessive spinocerebellar ataxia, 7 - (AR)
13.56
15520412
? - (11p15)
* Spinocerebellar ataxia, autosomal recessive 7 - SCAR7
Autosomal recessive spinocerebellar ataxia, 8 - (AR)
13.57
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
Autosomal recessive spinocerebellar ataxia, 9 (with ubiquinone deficiency) - (AR)
13.58
18319072
18319074
ADCK3 (1q42.13)
Atypical kinaseADCK3, mitochondrial(M)
* spinocerebellar ataxia, autosomal recessive 9 - SCAR9
Spinocerebellar ataxia, autosomal recessive 16 - (AR)
13.59
24113144
24719489
STUB1 (16p13.3)
STIP1 homology and U-box containing protein 1
* Spinocerebellar ataxia, autosomal recessive 16 - SCAR16
Spinocerebellar ataxia with axonal neuropathy - (AR)
13.60
12244316
TDP1 (14q31-q32)
Tyrosyl-DNA phosphodiesterase 1
* spinocerebellar ataxia, autosomal recessive, with axonal neuropathy - SCAN1
Marinesco-Sjögren syndrome (cerebellar ataxia with cataract and myopathy) - (AR)
13.61
14512967
16282977
16282978
SIL1 (5q31)
SIL1 homolog, endoplasmic reticulum chaperone
* Marinesco-Sjogren syndrome - MSS
Sensory ataxic neuropathy, dysarthria and ophtalmoparesis - (AR)
13.62
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
Ataxia telangiectasia - (AR)
13.63
3200306
7792600
ATM (11q22.3)
Ataxia telangiectasia mutated
* ataxia telangiectasia - AT
Ataxia telangiectasia-like disorder - (AR)
13.64
10612394
15574463
MRE11A (11q21)
MRE11 meiotic recombination 11 homolog A
* ataxia telangiectasia-like disorder - ATLD
Autosomal recessive spastic ataxia of Charlevoix-Saguenay - (AR)
13.65
10610707
10655055
9829277
SACS (13q12)
Sacsin
* Autosomal recessive spastic ataxia of Charlevoix-Saguenay - ARSACS
* Spastic ataxia 6 autosomal recessive Charlevoix-Saguenay type - SPAX6
Refsum disease-1 (adult) - (AR)
13.66
8595422
9326939
9326940
PHYH (10q13)
Phytanoyl-CoA 2-hydroxylase
* Refsum disease, adult - RD
Refsum disease-2 (adult) - (AR)
13.67
12522768
PEX7 (6q21-q22)
Peroxisomal biogenesis factor 7
* Refsum disease, adult - RD
Cerebellar ataxia and hypogonadotropic hypogonadism (Goedon Holmes syndrome) - (AR)
13.68
23656588
RNF216 (7p22.1)
Ring finger protein 216
* Cerebellar ataxia and hypogonadotropic hypogonadism (Goedon Holmes syndrome) - GDHS