GeneTable

1. Muscular dystrophies	5. Other myopathies	9. Metabolic myopathies	13. Hereditary ataxias
2. Congenital muscular dystrophies	6. Myotonic syndromes	10. Hereditary cardiomyopathies	14. Hereditary motor and sensory neuropathies
3. Congenital myopathies	7. Ion channel muscle diseases	11. Congenital myasthenic syndromes	15. Hereditary paraplegias
4. Distal myopathies	8. Malignant hyperthermia	12. Spinal muscular atrophies motoneuron diseases	16. Other neuromuscular disorders

13. HEREDITARY ATAXIAS (See references) - (download list of genes)

A. Spinocerebellar ataxias, autosomal dominant

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

ATXN1 (6p22.3)

Ataxin 1

	* Spinocerebellar ataxia 1 - SCA1
	* Olivopontocerebellar atrophy I - OPCA1

Spinocerebellar ataxia 2 - (AD)

13.2

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

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 27A - (AD)

13.24

12489043

15470364

FGF14 (13q34)

Fibroblast growth factor 14

	* Spinocerebellar ataxia 27A - SCA27
	* Spinocerebellar ataxia 27B, late onset - SCA27

Spinocerebellar ataxia 27B, late onset - (AD)

13.25

36516086

FGF14 (13q34)

Fibroblast growth factor 14

	* Spinocerebellar ataxia 27A - SCA27
	* Spinocerebellar ataxia 27B, late onset - 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, congenital nonprogressive - (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
	* Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 3 - PEOB3

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

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 42, early-onset, severe, with neurodevelopmental deficits - SCA42ND

Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits - (AD)

13.39

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)

13.40

27583304

MME (3q25.2)

Membrane metallo-endopeptidase

	* Charcot-Marie-Tooth neuropathy Type 2T - CMT2T
	* Spinocerebellar Ataxia, type 43 - SCA43

Spinocerebellar ataxia 44 - (AD)

13.41

28886343

GRM1 (6q24.3)

Glutamate receptor metabotropic, 1

	* Spinocerebellar ataxia 44 - SCA44
	* Spinocerebellar ataxia, autosomal recessive 13 - SCAR13

Spinocerebellar ataxia 45 - (AD)

13.42

29053796

FAT2 (5q33.1)

Fat tumor suppressor, Drosophila, Homologh of, 2

* Spinocerebellar ataxia 45 - SCA45

Spinocerebellar ataxia 46 - (AD)

13.43

29053796

PLD3 (19q13.2)

Phospholipase D family, member 3

* Spinocerebellar ataxia 46 - SCA46

Spinocerebellar ataxia 47 - (AD)

13.44

29474920

PUM1 (1p35.2)

Pumilio, Drosophila, Homologh of, 1

* Spinocerebellar ataxia 47 - SCA47

Spinocerebellar ataxia 48 - (AD)

13.45

30381368

STUB1 (16p13.3)

STIP1 homology and U-box containing protein 1

	* Spinocerebellar ataxia, autosomal recessive 16 - SCAR16
	* Spinocerebellar ataxia 48 - SCA48

Spinocerebellar ataxia 49 - (AD)

13.46

35310830

SAMD9L (7q21.2)

Sterile Alpha Motif Domain-Containing Protein 9-Like

	* Spinocerebellar ataxia 49 - SCA49
	* Ataxia-pancytopenia syndrome - ATXPC

Spinocerebellar ataxia 50 - (AD)

13.47

34788392

35560436

NPTX1 (17q25.3)

Pentraxin I, neuronal, NP1

* Spinocerebellar ataxia 50 - SCA50

Episodic ataxia type-2 ,and familial hemiplegic migraine - (AD)

13.48

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)

13.49

11673600

17575281

? - (1q42)

* episodic ataxia type-3 - EA3

Episodic ataxia type-5 - (AD)

13.50

10762541

CACNB4 (2q22-q23)

Calcium channel, voltage-dependent, beta 4 subunit

* episodic ataxia type 5, included - EA5

Episodic ataxia type-6 - (AD)

13.51

16116111

19139306

SLC1A3 (5p13)

EAAT1 (excitatory amino acid transporter type 1)

* episodic ataxia type 6 - EA6

Episodic ataxia type-7 - (AD)

13.52

17502476

? - (19q13)

* episodic ataxia type-7 - EA7

Episodic ataxia type-9 - (AD)

13.53

20956790

SCN2A (2q24.3)

Sodium voltage-gated channel, alpha subunit 2; SCN2A

* Episodic ataxia type-9 - EA9

Acetazolamide responsive hereditary paroxysmal cerebellar ataxia - (AD)

13.54

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

Neurological impairment - (AD)

13.55

32356556

TOMM70 (3q12.2)

Translocase of Outer Mitochondrial Membrane 70

* Neurological impairment

Ataxia-pancytopenia syndrome - (AD)

13.56

27259050

SAMD9L (7q21.2)

Sterile Alpha Motif Domain-Containing Protein 9-Like

	* Spinocerebellar ataxia 49 - SCA49
	* Ataxia-pancytopenia syndrome - ATXPC

B. Spinocerebellar ataxias, autosomal recessive

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

Friedreich ataxia 1 - (AR)

13.57

10543403

2899844

8596916

FXN (9q13-q21.1)

Frataxin(M)

	* Friedreich ataxia - FRDA
	* Friedreich ataxia with retained reflexes - FARR

Friedreich ataxia 2 - (AR)

13.58

11523563

? - (9p23-p11)

* friedreich ataxia 2 - FRDA2

Friedreich ataxia with selective vitamin E deficiency - (AR)

13.59

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)

13.60

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)

13.61

11586299

11586300

APTX (9p13.3)

Aprataxin

* Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia - EAOH

Autosomal recessive spinocerebellar ataxia, 2 - (AR)

13.62

25808372

PMPCA (9q34.3)

Mitochondrial processing peptidase-alpha, KIAA0123

* Autosomal recessive spinocerebellar ataxia, 2 - SCAR2

Autosomal recessive spinocerebellar ataxia, 3 - (AR)

13.63

11175288

? - (6p23-p21)

* Spinocerebellar ataxia, autosomal recessive 3 - SCAR3

Autosomal recessive spinocerebellar ataxia, 4 - (AR)

13.64

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 Formerly Autosomal recessive spinocerebellar ataxia, 5 - (AR)

13.65

12030328

WDR73 (15q24-q26)

WD Repeat-Containing Protein 73

* Galloway-Mowat syndrome 1 - GAMOS1

Autosomal recessive spinocerebellar ataxia, 6 - (AR)

13.66

12811539

? - (20q11-q13)

* Spinocerebellar ataxia, autosomal recessive 6 - SCAR6

Autosomal recessive spinocerebellar ataxia, 7 - (AR)

13.67

15520412

TPP1 (11p15.4)

Tripeptidyl peptidase I

* Spinocerebellar ataxia, autosomal recessive 7 - SCAR7

Autosomal recessive spinocerebellar ataxia, 8 - (AR)

13.68

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)

13.69

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)

13.70

21092923

ANO10 (3p22.1-p21.3)

Anoctamin 10

* Spinocerebellar ataxia, autosomal recessive 10 - SCAR10

Spinocerebellar ataxia, autosomal recessive 11 - (AR)

13.71

21835308

SYT14 (1q32.2)

Synaptotagmin 14

* Spinocerebellar ataxia, autosomal recessive 11 - SCAR11

Spinocerebellar ataxia, autosomal recessive 12 - (AR)

13.72

24369382

WWOX (16q23.1-q23.2)

WW Domain-Containing Oxidoreductase(M)

* Spinocerebellar ataxia, autosomal recessive 12 - SCAR12

Spinocerebellar ataxia, autosomal recessive 13 - (AR)

13.73

22901947

GRM1 (6q24.3)

Glutamate receptor metabotropic, 1

	* Spinocerebellar ataxia 44 - SCA44
	* Spinocerebellar ataxia, autosomal recessive 13 - SCAR13

Spinocerebellar ataxia, autosomal recessive 14 - (AR)

13.74

23236289

SPTBN2 (11q13.2)

Spectrin, Beta, Nonerythrocytic, 2

	* Spinocerebellar ataxia 5 - SCA5
	* Spinocerebellar ataxia, autosomal recessive 14 - SCAR14

Spinocerebellar ataxia, autosomal recessive 15 - (AR)

13.75

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)

13.76

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)

13.77

25361784

CWF19L1 (10q24.31)

CWF19-like Protein 1

* Spinocerebellar ataxia, autosomal recessive 17 - SCAR17

Spinocerebellar ataxia, autosomal recessive 18 - (AR)

13.78

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)

13.79

25205112

SLC9A1 (1p36.11)

Solute carrier family 9, member 1

* Spinocerebellar ataxia, autosomal recessive 19 - SCAR19

Spinocerebellar ataxia, autosomal recessive 20 - (AR)

13.80

25439728

SNX14 (6q14.3)

sorting nexin 14

* Spinocerebellar ataxia, autosomal recessive 20 - SCAR20

Spinocerebellar ataxia, autosomal recessive 21 - (AR)

13.81

26581903

SCYL1 (11q13.1)

SCY1 like pseudokinase 1

* Spinocerebellar ataxia, autosomal recessive 21 - SCAR21

Spinocerebellar ataxia, autosomal recessive 22 - (AR)

13.82

26157035

VWA3B (2q11.2)

Von Willebrand factor A domain Containing Protein 3B

* Spinocerebellar ataxia, autosomal recessive 22 - SCAR22

Spinocerebellar ataxia, autosomal recessive 23 - (AR)

13.83

24658003

TDP2 (6p22.3)

Tyrosyl-DNA phosphodiesterase 2

* Spinocerebellar ataxia, autosomal recessive 23 - SCAR23

Spinocerebellar ataxia, autosomal recessive 24 - (AR)

13.84

26872069

UBA5 (3q22.1)

Ubiquitin-Like Modifier Activating Enzyme 5

* Spinocerebellar ataxia, autosomal recessive 24 - SACR24

Spinocerebellar ataxia, autosomal recessive 25 - (AR)

13.85

26812546

ATG5 (6q21)

Autophagy 5, S. Cerevisiae, Homolog of

* Spinocerebellar ataxia, autosomal recessive 25 - SCAR25

Spinocerebellar ataxia, autosomal recessive 26 - (AR)

13.86

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)

13.87

30084953

GDAP2 (1p12)

Ganglioside induced differentiation associated protein 2

* Spinocerebellar ataxia, autosomal recessive 27 - SACR27

Spinocerebellar ataxia, autosomal recessive 28 - (AR)

13.88

27307223

THG1L (5q33.3)

tRNA-histidine guanyltransferase 1-like protein

* Spinocerebellar ataxia, autosomal recessive 28 - SCAR28

Spinocerebellar ataxia, autosomal recessive 29 - (AR)

13.89

33764426

VPS41 (7p14.1)

VPS41 Subunit of Hops Complex

* Spinocerebellar ataxia - SCAR29

Spinocerebellar ataxia, autosomal recessive 30 - (AR)

13.90

26697887

PITRM1 (10p15.2)

Pitrilysin metallopeptidase 1

* Spinocerebellar ataxia, autosomal recessive 30 - SCAR30

Spinocerebellar ataxia, autosomal recessive 31 - (AR)

13.91

34161705

ATG7 (3p25.3)

Autophagy-Related 7

* Spinocerebellar ataxia - SCAR31

Spinocerebellar ataxia, autosomal recessive 32 - (AR)

13.92

33889951

PRDX3 (10q26.11)

Peroxiredoxin 3

* Spinocerebellar ataxia, autosomal recessive 32 - SCAR32

Spinocerebellar ataxia, autosomal recessive 33 - (AR)

13.93

27863452

RNU12 (22q13.2)

RNA, U12 small nuclear

* Spinocerebellar ataxia, autosomal recessive 33 - SCAR33

Spinocerebellar ataxia with axonal neuropathy - (AR)

13.94

12244316

TDP1 (14q31-q32)

Tyrosyl-DNA phosphodiesterase 1

* spinocerebellar ataxia, autosomal recessive, with axonal neuropathy - SCAN1

Spinocerebellar ataxia with axonal neuropathy type 2 - (AR)

13.95

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)

13.96

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)

13.97

14512967

16282977

16282978

SIL1 (5q31)

SIL1 homolog, endoplasmic reticulum chaperone

* Marinesco-Sjogren syndrome - MSS

Sensory ataxic neuropathy, dysarthria and ophtalmoparesis - (AR)

13.98

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)

13.99

3200306

7792600

ATM (11q22.3)

Ataxia telangiectasia mutated

* ataxia telangiectasia - AT

Ataxia telangiectasia-like disorder 1 - (AR)

13.100

10612394

15574463

MRE11A (11q21)

MRE11 meiotic recombination 11 homolog A

* ataxia telangiectasia-like disorder - ATLD

Ataxia telangiectasia-like disorder 2 - (AR)

13.101

24911150

PCNA (20p12.3)

Proloferating cell nuclear antigen

* Ataxia telangiectasia-like disorder 2 - ATLD2

Spastic ataxia, Charlevoix-Saguenay type - (AR)

13.102

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)

13.103

8595422

9326939

9326940

PHYH (10q13)

Phytanoyl-CoA 2-hydroxylase

* Refsum disease, adult - RD

Refsum disease-2 (adult) - (AR)

13.104

12522768

PEX7 (6q21-q22)

Peroxisomal biogenesis factor 7

* Refsum disease, adult - RD

Cerebellar ataxia and hypogonadotropic hypogonadism (Goedon Holmes syndrome) - (AR)

13.105

23656588

RNF216 (7p22.1)

Ring finger protein 216

* Cerebellar ataxia and hypogonadotropic hypogonadism (Goedon Holmes syndrome) - GDHS

Myopathy, mitochondrial and cerebellar ataxia - (AR)

13.106

28544275

MSTO1 (1q22)

Misato homolog 1 (Drosophila)(M)

* Myopathy, mitochondrial and cerebellar ataxia - MMYAT

Leukodystrophy hypomyelinating 23 with ataxia, deafness, liver dysfunction and dilated cardiomyopathy

13.107

33964137

RNF220 (1p34.1)

Ring finger protein 220

* Leukodystrophy hypomyelinating 23 with ataxia, deafness, liver dysfunction and dilated cardiomyopathy - HLD23

Cerebellar ataxia with neuropathy, hearing loss and intellectual disability - (XL)

13.108

32337346

AIFM1 (Xq24-q26.1)

Apoptosis-inducing factor, Mitochondria-associated 1(M)

	* Neuropathy, axonal motor-sensory, with deafness and mental retardation - NAMSD
	* Charcot-Marie-Tooth disease, X-linked 4 (Cowchock syndrome) - COWCK
	* Charcot-Marie-Tooth disease with deafness and mental retardation - NAMSD
	* Combined Oxidative phosphorylation Deficiency 6 - COXPD6
	* Cerebellar ataxia with neuropathy, hearing loss and intellectual disability

Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy and Epilepsy - (AR)

13.109

32220290

PIGK (1p31.1)

Phosphatidylinositol Glycan Anchor Biosynthesis Class K Protein

* Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy and Epilepsy - NEDHCAS

Coenzyme Q10 deficiency - (AR)

13.110

29044765

COQ5 (12q24.31)

Coenzyme Q5 Methyltransferase(M)

* Coenzyme Q10 deficiency - COQ10D9

GeneTable of Neuromuscular Disorders