Names of Genes - Ataxia category

Gene Chromosome Location Syndrome
ABCB723q13.3X-linked sideroblastic anemia and ataxia
ABHD53p21.33Chanarin-Dorfman syndrome type 1
AFG3L218p11.21Progressive external ophthalmoplegia
ALG116p13.3ALG1-congenital disorder of glycosylation
ALG61p31.3ALG6-congenital disorder of glycosylation
AMACR5p13.2Alpha-methylacyl-CoA racemase deficiency
ANO103p22.1Spinocerebellar ataxia autosomal recessive type 10
APTX9p21.1Ataxia with oculomotor apraxia
ARG16q23.2Arginase deficiency
ASS19q34.11Citrullinemia
ATCAY19p13.3Cerebellar ataxia cayman type
ATM11q22.3Ataxia-telangiectasia
ATN112p13.31Dentatorubral-pallidoluysian atrophy
ATP1A21q23.2Sporadic hemiplegic migraine
ATP8A213q12.13Cerebellar ataxia mental retardation and dysequilibrium syndrome type 04
ATXN16p22.3Spinocerebellar ataxia type 01
ATXN1022q13.31Spinocerebellar ataxia type 10
ATXN212q24.12Spinocerebellar ataxia type 02
ATXN314q32.12Spinocerebellar ataxia type 03
ATXN73p14.1Autosomal dominant cerebellar ataxias
ATXN8OS13q21.33Spinocerebellar ataxia type 08
AUH9q22.313-methylglutaconyl-CoA hydratase deficiency
BEAN116q21Spinocerebellar ataxia type 31
CA88q12.1Cerebellar ataxia mental retardation and dysequilibrium syndrome type 03
CACNA1A19p13.13Episodic ataxia
CACNA1A19p13.13Spinocerebellar ataxia type 06
CACNB42q23.3Episodic ataxia
CGF123p11.22Perrault syndrome
CISD24q24Wolfram syndrome
CLCN23q27.1CLCN2-related leukoencephalopathy
CLN513q22.3Neuronal ceroid lipofuscinosis disease type 05
CLN615q23CLN6 disease
CLN88p23.3Neuronal ceroid lipofuscinosis disease type 08
CLPP19p13.3Perrault syndrome
COQ24Q21.22Primary coenzyme Q10 deficiency
COQ24q21.22Multiple system atrophy
COQ49Q34.11Primary coenzyme Q10 deficiency
COQ614Q24.3Primary coenzyme Q10 deficiency
COQ716P12.3Primary coenzyme Q10 deficiency
COQ8A1Q42.13Primary coenzyme Q10 deficiency
COQ8B19q13.2Primary coenzyme Q10 deficiency
COQ916q21Primary coenzyme Q10 deficiency
COX201q44Cytochrome-c oxidase deficiency
CP3q24-5Aceruloplasminemia
CTSA20q13.12Galactosialidosis
CTSB21q22.3Unverricht-Lundborg disease
CWF19L110q24.31Spinocerebellar ataxia autosomal recessive type 17
CXCR42q22.1Waldenström macroglobulinemia
D2HGDH2q37.32-hydroxyglutaric aciduria
DARS21q25.1Leukoencephalopathy with brainstem/spinal cord involvement
DLAT11q23.1Pyruvate dehydrogenase deficiency
DLD7q31.1Dihydrolipoamide dehydrogenase deficiency
DNA210q21.3Progressive external ophthalmoplegia
DNAJC193q26.33Dilated cardiomyopathy with ataxia syndrome
DNAJC520q13.33CLN4 disease
DNMT119p13.2Autosomal dominant cerebellar ataxia deafness and narcolepsy
ELOVL56p12.1Spinocerebellar ataxia type 38
FAH15q25.1Tyrosinemia type 01
FGF1413q33.1Spinocerebellar ataxia type 27
FLVCR11q32.3Posterior column ataxia with retinitis pigmentosa
FOLR111q13.4Cerebral folate transport deficiency
FXN9q21.11Friedreich ataxia
GABRD1p36.33Genetic epilepsy with febrile seizures plus
GABRG25q34Genetic epilepsy with febrile seizures plus
GAN16q23.2Giant axonal neuropathy
GFAP4q21.31Alexander disease
GJC21q42.13Pelizaeus-Merzbacher-like disease type 01
GRID24q22.1-2Spinocerebellar ataxia autosomal recessive type 18
HARS25q31.3Perrault syndrome
HEPACAM11q24.2Megalencephalic leukoencephalopathy with subcortical cysts type 02
HEXA15q23Tay-Sachs disease
HEXB5q13.3Sandhoff disease
HPD12q24.31Tyrosinemia type 03
HSD17B45q23.1Perrault syndrome
IDH215q26.12-hydroxyglutaric aciduria
IFT14016p13.3Mainzer-Saldino syndrome
ITPR13p26.1Spinocerebellar ataxia type 15
ITPR13p26.1Spinocerebellar ataxia type 29
ITPR13p26.1Gillespie syndrome
KCNA112p13.32Episodic ataxia
KIF1C17p13.2Spastic ataxia autosomal recessive type 02
L2HGDH14q21.32-hydroxyglutaric aciduria
LARS23p21.31Perrault syndrome
LMNB15q23.2Autosomal dominant leukodystrophy with autonomic disease
LYST1q42.3Chediak-Higashi syndrome
MAN2B119p13.13Alpha-mannosidosis type 1
MARS22q33.1Spastic ataxia autosomal recessive type 03
MFSD84q28.2CLN7 disease
MIPEP13q12.12Friedreich ataxia
MLC122q13.33Megalencephalic leukoencephalopathy with subcortical cysts type 01
MT-ATP608527Neuropathy ataxia and retinitis pigmentosa
MT-ND103307Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes
MT-ND5012337Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes
MT-TI04263Progressive external ophthalmoplegia
MTTP4q23Abetalipoproteinemia
MT-TV01602Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes
MYD883p22.2Waldenström macroglobulinemia
NEU16p21.33Sialidosis
NOP5620p13Spinocerebellar ataxia type 36
NPC118q11.2Niemann-Pick disease
NPC214q24.3Niemann-Pick disease
OPA1-both3q29Behr syndrome
OPA1-one3q29Optic atrophy type 01
PAX611p13Gillespie syndrome
PDHA123p22.12Pyruvate dehydrogenase deficiency
PDHB3p14.3Pyruvate dehydrogenase deficiency
PDHX11p13Pyruvate dehydrogenase deficiency
PDP18q22.1Pyruvate dehydrogenase deficiency
PDSS110p12.1Primary coenzyme Q10 deficiency
PDSS26q21Primary coenzyme Q10 deficiency
PEX76q23.3Refsum disease
PHYH10p13Refsum disease
PI3K17p13.1Ataxia with oculomotor apraxia
PLP123q22.2Pelizaeus-Merzbacher disease
PMM26p13.2PMM2-congenital disorder of glycosylation
PMPCA9q34.3Spinocerebellar ataxia autosomal recessive type 02
PNKP19q13.33Ataxia with oculomotor apraxia
PNP14q11.2Purine nucleoside phosphorylase deficiency
PNPLA619p13.2Gordon Holmes syndrome
POLG15q26.1Ataxia neuropathy spectrum
POLG217q23.3Progressive external ophthalmoplegia
POLR3A10q22.3Pol III-related leukodystrophy
POLR3B12q23.3Pol III-related leukodystrophy
PPP2R2B5q32Spinocerebellar ataxia type 12
PRICKLE112q12PRICKLE1-related progressive myoclonus epilepsy with ataxia
PRKCG19q13.42Spinocerebellar ataxia type 14
PRPS123q22.3Arts syndrome
RNASEH12p25.3Progressive external ophthalmoplegia
RNF1708p11.21Ataxia sensory autosomal dominant type 01
RNF2167p22.1Gordon Holmes syndrome
RTN4IP16q21Optic atrophy with ataxia mental retardation and seizures type 10
RUBCN3q29Spinocerebellar ataxia autosomal recessive type 15
SACS13q12.12Autosomal recessive spastic ataxia of Charlevoix-Saguenay
SAMD9L7q21.2Ataxia-pancytopenia syndrome
SCN1B19q13.11Genetic epilepsy with febrile seizures plus
SETX9q34.13Ataxia with oculomotor apraxia
SIL15q31.2Marinesco-Sjögren syndrome type 2
SLC17A56q13Sialic acid storage disease
SLC19A32q36.3Biotin-thiamine-responsive basal ganglia disease
SLC1A35p13.2Episodic ataxia
SLC20A28p11.21Familial idiopathic basal ganglia calcification
SLC25A122q11.212-hydroxyglutaric aciduria
SLC25A137q21.3Citrullinemia
SLC25A1513q14.11Ornithine translocase deficiency
SLC25A44q35.1Progressive external ophthalmoplegia
SLC2A11p34.2Non-epileptic GLUT1 deficiency syndrome
SLC2A11p34.2GLUT1 deficiency syndrome
SLC46A117q11.2Hereditary folate malabsorption
SLC6A195p15.33Hartnup disease
SMPD111p15.4Niemann-Pick disease
SNCA4q22.1Multiple system atrophy
SPG716q24.3Progressive external ophthalmoplegia
SPTBN211q13.2Spinocerebellar ataxia autosomal recessive type 14
SPTBN211q13.2Spinocerebellar ataxia type 05
STUB116p13.3Spinocerebellar ataxia autosomal recessive type 16
STX1B16p11.2Genetic epilepsy with febrile seizures plus
SUOX12q13.2Isolated sulfite oxidase deficiency
SYNE16q25.2Autosomal recessive cerebellar ataxia type 01
SYT141q32.2Spinocerebellar ataxia autosomal recessive type 11
TAT16q22.2Tyrosinemia type 02
TDP114q32.11Spinocerebellar ataxia autosomal recessive with axonal neuropathy type 01
TGM620p13Spinocerebellar ataxia type 35
TIMM823q22.1Deafness-dystonia-optic neuronopathy syndrome
TK216q21Progressive external ophthalmoplegia
TMEM2401p36.33Spinocerebellar ataxia type 21
TOPB3p24.2Ataxia-telangiectasia
TPP111p15.4Neuronal ceroid lipofuscinosis disease type 2
TRNT13p26.2TRNT1 deficiency
TTBK215q15.2Spinocerebellar ataxia type 11
TTPA8q12.3Ataxia with vitamin E deficiency
TTR18q12.1Transthyretin amyloidosis
TUBB4A19p13.3TUBB4A-related leukodystrophy
TWNK10q24.31Ataxia neuropathy spectrum
VAMP112p13.31Spastic ataxia autosomal dominant type 01
VHL3p25.3Von Hippel-Lindau syndrome
VLDLR9p24.2VLDLR-associated cerebellar hypoplasia
VWA3B2q11.2Spinocerebellar ataxia autosomal recessive type 22
WDR4523p11.23Beta-propeller protein-associated neurodegeneration
WDR8117p13.3Cerebellar ataxia mental retardation and dysequilibrium syndrome type 02
WFS14p16.1Wolfram syndrome
WWOX16q23.1-2Spinocerebellar ataxia autosomal recessive type 12
ZNF59215q25.3Autosomal recessive spinocerebellar ataxia


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