Gene |
Chromosome |
Location |
Syndrome |
ABCB7 | 23 | q13.3 | X-linked sideroblastic anemia and ataxia | |
ABHD5 | 3 | p21.33 | Chanarin-Dorfman syndrome type 1 | |
AFG3L2 | 18 | p11.21 | Progressive external ophthalmoplegia | |
ALG1 | 16 | p13.3 | ALG1-congenital disorder of glycosylation | |
ALG6 | 1 | p31.3 | ALG6-congenital disorder of glycosylation | |
AMACR | 5 | p13.2 | Alpha-methylacyl-CoA racemase deficiency | |
ANO10 | 3 | p22.1 | Spinocerebellar ataxia autosomal recessive type 10 | |
APTX | 9 | p21.1 | Ataxia with oculomotor apraxia | |
ARG1 | 6 | q23.2 | Arginase deficiency | |
ASS1 | 9 | q34.11 | Citrullinemia | |
ATCAY | 19 | p13.3 | Cerebellar ataxia cayman type | |
ATM | 11 | q22.3 | Ataxia-telangiectasia | |
ATN1 | 12 | p13.31 | Dentatorubral-pallidoluysian atrophy | |
ATP1A2 | 1 | q23.2 | Sporadic hemiplegic migraine | |
ATP8A2 | 13 | q12.13 | Cerebellar ataxia mental retardation and dysequilibrium syndrome type 04 | |
ATXN1 | 6 | p22.3 | Spinocerebellar ataxia type 01 | |
ATXN10 | 22 | q13.31 | Spinocerebellar ataxia type 10 | |
ATXN2 | 12 | q24.12 | Spinocerebellar ataxia type 02 | |
ATXN3 | 14 | q32.12 | Spinocerebellar ataxia type 03 | |
ATXN7 | 3 | p14.1 | Autosomal dominant cerebellar ataxias | |
ATXN8OS | 13 | q21.33 | Spinocerebellar ataxia type 08 | |
AUH | 9 | q22.31 | 3-methylglutaconyl-CoA hydratase deficiency | |
BEAN1 | 16 | q21 | Spinocerebellar ataxia type 31 | |
CA8 | 8 | q12.1 | Cerebellar ataxia mental retardation and dysequilibrium syndrome type 03 | |
CACNA1A | 19 | p13.13 | Episodic ataxia | |
CACNA1A | 19 | p13.13 | Spinocerebellar ataxia type 06 | |
CACNB4 | 2 | q23.3 | Episodic ataxia | |
CGF1 | 23 | p11.22 | Perrault syndrome | |
CISD2 | 4 | q24 | Wolfram syndrome | |
CLCN2 | 3 | q27.1 | CLCN2-related leukoencephalopathy | |
CLN5 | 13 | q22.3 | Neuronal ceroid lipofuscinosis disease type 05 | |
CLN6 | 15 | q23 | CLN6 disease | |
CLN8 | 8 | p23.3 | Neuronal ceroid lipofuscinosis disease type 08 | |
CLPP | 19 | p13.3 | Perrault syndrome | |
COQ2 | 4 | Q21.22 | Primary coenzyme Q10 deficiency | |
COQ2 | 4 | q21.22 | Multiple system atrophy | |
COQ4 | 9 | Q34.11 | Primary coenzyme Q10 deficiency | |
COQ6 | 14 | Q24.3 | Primary coenzyme Q10 deficiency | |
COQ7 | 16 | P12.3 | Primary coenzyme Q10 deficiency | |
COQ8A | 1 | Q42.13 | Primary coenzyme Q10 deficiency | |
COQ8B | 19 | q13.2 | Primary coenzyme Q10 deficiency | |
COQ9 | 16 | q21 | Primary coenzyme Q10 deficiency | |
COX20 | 1 | q44 | Cytochrome-c oxidase deficiency | |
CP | 3 | q24-5 | Aceruloplasminemia | |
CTSA | 20 | q13.12 | Galactosialidosis | |
CTSB | 21 | q22.3 | Unverricht-Lundborg disease | |
CWF19L1 | 10 | q24.31 | Spinocerebellar ataxia autosomal recessive type 17 | |
CXCR4 | 2 | q22.1 | Waldenström macroglobulinemia | |
D2HGDH | 2 | q37.3 | 2-hydroxyglutaric aciduria | |
DARS2 | 1 | q25.1 | Leukoencephalopathy with brainstem/spinal cord involvement | |
DLAT | 11 | q23.1 | Pyruvate dehydrogenase deficiency | |
DLD | 7 | q31.1 | Dihydrolipoamide dehydrogenase deficiency | |
DNA2 | 10 | q21.3 | Progressive external ophthalmoplegia | |
DNAJC19 | 3 | q26.33 | Dilated cardiomyopathy with ataxia syndrome | |
DNAJC5 | 20 | q13.33 | CLN4 disease | |
DNMT1 | 19 | p13.2 | Autosomal dominant cerebellar ataxia deafness and narcolepsy | |
ELOVL5 | 6 | p12.1 | Spinocerebellar ataxia type 38 | |
FAH | 15 | q25.1 | Tyrosinemia type 01 | |
FGF14 | 13 | q33.1 | Spinocerebellar ataxia type 27 | |
FLVCR1 | 1 | q32.3 | Posterior column ataxia with retinitis pigmentosa | |
FOLR1 | 11 | q13.4 | Cerebral folate transport deficiency | |
FXN | 9 | q21.11 | Friedreich ataxia | |
GABRD | 1 | p36.33 | Genetic epilepsy with febrile seizures plus | |
GABRG2 | 5 | q34 | Genetic epilepsy with febrile seizures plus | |
GAN | 16 | q23.2 | Giant axonal neuropathy | |
GFAP | 4 | q21.31 | Alexander disease | |
GJC2 | 1 | q42.13 | Pelizaeus-Merzbacher-like disease type 01 | |
GRID2 | 4 | q22.1-2 | Spinocerebellar ataxia autosomal recessive type 18 | |
HARS2 | 5 | q31.3 | Perrault syndrome | |
HEPACAM | 11 | q24.2 | Megalencephalic leukoencephalopathy with subcortical cysts type 02 | |
HEXA | 15 | q23 | Tay-Sachs disease | |
HEXB | 5 | q13.3 | Sandhoff disease | |
HPD | 12 | q24.31 | Tyrosinemia type 03 | |
HSD17B4 | 5 | q23.1 | Perrault syndrome | |
IDH2 | 15 | q26.1 | 2-hydroxyglutaric aciduria | |
IFT140 | 16 | p13.3 | Mainzer-Saldino syndrome | |
ITPR1 | 3 | p26.1 | Spinocerebellar ataxia type 15 | |
ITPR1 | 3 | p26.1 | Spinocerebellar ataxia type 29 | |
ITPR1 | 3 | p26.1 | Gillespie syndrome | |
KCNA1 | 12 | p13.32 | Episodic ataxia | |
KIF1C | 17 | p13.2 | Spastic ataxia autosomal recessive type 02 | |
L2HGDH | 14 | q21.3 | 2-hydroxyglutaric aciduria | |
LARS2 | 3 | p21.31 | Perrault syndrome | |
LMNB1 | 5 | q23.2 | Autosomal dominant leukodystrophy with autonomic disease | |
LYST | 1 | q42.3 | Chediak-Higashi syndrome | |
MAN2B1 | 19 | p13.13 | Alpha-mannosidosis type 1 | |
MARS2 | 2 | q33.1 | Spastic ataxia autosomal recessive type 03 | |
MFSD8 | 4 | q28.2 | CLN7 disease | |
MIPEP | 13 | q12.12 | Friedreich ataxia | |
MLC1 | 22 | q13.33 | Megalencephalic leukoencephalopathy with subcortical cysts type 01 | |
MT-ATP6 | 0 | 8527 | Neuropathy ataxia and retinitis pigmentosa | |
MT-ND1 | 0 | 3307 | Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes | |
MT-ND5 | 0 | 12337 | Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes | |
MT-TI | 0 | 4263 | Progressive external ophthalmoplegia | |
MTTP | 4 | q23 | Abetalipoproteinemia | |
MT-TV | 0 | 1602 | Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes | |
MYD88 | 3 | p22.2 | Waldenström macroglobulinemia | |
NEU1 | 6 | p21.33 | Sialidosis | |
NOP56 | 20 | p13 | Spinocerebellar ataxia type 36 | |
NPC1 | 18 | q11.2 | Niemann-Pick disease | |
NPC2 | 14 | q24.3 | Niemann-Pick disease | |
OPA1-both | 3 | q29 | Behr syndrome | |
OPA1-one | 3 | q29 | Optic atrophy type 01 | |
PAX6 | 11 | p13 | Gillespie syndrome | |
PDHA1 | 23 | p22.12 | Pyruvate dehydrogenase deficiency | |
PDHB | 3 | p14.3 | Pyruvate dehydrogenase deficiency | |
PDHX | 11 | p13 | Pyruvate dehydrogenase deficiency | |
PDP1 | 8 | q22.1 | Pyruvate dehydrogenase deficiency | |
PDSS1 | 10 | p12.1 | Primary coenzyme Q10 deficiency | |
PDSS2 | 6 | q21 | Primary coenzyme Q10 deficiency | |
PEX7 | 6 | q23.3 | Refsum disease | |
PHYH | 10 | p13 | Refsum disease | |
PI3K | 17 | p13.1 | Ataxia with oculomotor apraxia | |
PLP1 | 23 | q22.2 | Pelizaeus-Merzbacher disease | |
PMM2 | 6 | p13.2 | PMM2-congenital disorder of glycosylation | |
PMPCA | 9 | q34.3 | Spinocerebellar ataxia autosomal recessive type 02 | |
PNKP | 19 | q13.33 | Ataxia with oculomotor apraxia | |
PNP | 14 | q11.2 | Purine nucleoside phosphorylase deficiency | |
PNPLA6 | 19 | p13.2 | Gordon Holmes syndrome | |
POLG | 15 | q26.1 | Ataxia neuropathy spectrum | |
POLG2 | 17 | q23.3 | Progressive external ophthalmoplegia | |
POLR3A | 10 | q22.3 | Pol III-related leukodystrophy | |
POLR3B | 12 | q23.3 | Pol III-related leukodystrophy | |
PPP2R2B | 5 | q32 | Spinocerebellar ataxia type 12 | |
PRICKLE1 | 12 | q12 | PRICKLE1-related progressive myoclonus epilepsy with ataxia | |
PRKCG | 19 | q13.42 | Spinocerebellar ataxia type 14 | |
PRPS1 | 23 | q22.3 | Arts syndrome | |
RNASEH1 | 2 | p25.3 | Progressive external ophthalmoplegia | |
RNF170 | 8 | p11.21 | Ataxia sensory autosomal dominant type 01 | |
RNF216 | 7 | p22.1 | Gordon Holmes syndrome | |
RTN4IP1 | 6 | q21 | Optic atrophy with ataxia mental retardation and seizures type 10 | |
RUBCN | 3 | q29 | Spinocerebellar ataxia autosomal recessive type 15 | |
SACS | 13 | q12.12 | Autosomal recessive spastic ataxia of Charlevoix-Saguenay | |
SAMD9L | 7 | q21.2 | Ataxia-pancytopenia syndrome | |
SCN1B | 19 | q13.11 | Genetic epilepsy with febrile seizures plus | |
SETX | 9 | q34.13 | Ataxia with oculomotor apraxia | |
SIL1 | 5 | q31.2 | Marinesco-Sjögren syndrome type 2 | |
SLC17A5 | 6 | q13 | Sialic acid storage disease | |
SLC19A3 | 2 | q36.3 | Biotin-thiamine-responsive basal ganglia disease | |
SLC1A3 | 5 | p13.2 | Episodic ataxia | |
SLC20A2 | 8 | p11.21 | Familial idiopathic basal ganglia calcification | |
SLC25A1 | 22 | q11.21 | 2-hydroxyglutaric aciduria | |
SLC25A13 | 7 | q21.3 | Citrullinemia | |
SLC25A15 | 13 | q14.11 | Ornithine translocase deficiency | |
SLC25A4 | 4 | q35.1 | Progressive external ophthalmoplegia | |
SLC2A1 | 1 | p34.2 | Non-epileptic GLUT1 deficiency syndrome | |
SLC2A1 | 1 | p34.2 | GLUT1 deficiency syndrome | |
SLC46A1 | 17 | q11.2 | Hereditary folate malabsorption | |
SLC6A19 | 5 | p15.33 | Hartnup disease | |
SMPD1 | 11 | p15.4 | Niemann-Pick disease | |
SNCA | 4 | q22.1 | Multiple system atrophy | |
SPG7 | 16 | q24.3 | Progressive external ophthalmoplegia | |
SPTBN2 | 11 | q13.2 | Spinocerebellar ataxia autosomal recessive type 14 | |
SPTBN2 | 11 | q13.2 | Spinocerebellar ataxia type 05 | |
STUB1 | 16 | p13.3 | Spinocerebellar ataxia autosomal recessive type 16 | |
STX1B | 16 | p11.2 | Genetic epilepsy with febrile seizures plus | |
SUOX | 12 | q13.2 | Isolated sulfite oxidase deficiency | |
SYNE1 | 6 | q25.2 | Autosomal recessive cerebellar ataxia type 01 | |
SYT14 | 1 | q32.2 | Spinocerebellar ataxia autosomal recessive type 11 | |
TAT | 16 | q22.2 | Tyrosinemia type 02 | |
TDP1 | 14 | q32.11 | Spinocerebellar ataxia autosomal recessive with axonal neuropathy type 01 | |
TGM6 | 20 | p13 | Spinocerebellar ataxia type 35 | |
TIMM8 | 23 | q22.1 | Deafness-dystonia-optic neuronopathy syndrome | |
TK2 | 16 | q21 | Progressive external ophthalmoplegia | |
TMEM240 | 1 | p36.33 | Spinocerebellar ataxia type 21 | |
TOPB | 3 | p24.2 | Ataxia-telangiectasia | |
TPP1 | 11 | p15.4 | Neuronal ceroid lipofuscinosis disease type 2 | |
TRNT1 | 3 | p26.2 | TRNT1 deficiency | |
TTBK2 | 15 | q15.2 | Spinocerebellar ataxia type 11 | |
TTPA | 8 | q12.3 | Ataxia with vitamin E deficiency | |
TTR | 18 | q12.1 | Transthyretin amyloidosis | |
TUBB4A | 19 | p13.3 | TUBB4A-related leukodystrophy | |
TWNK | 10 | q24.31 | Ataxia neuropathy spectrum | |
VAMP1 | 12 | p13.31 | Spastic ataxia autosomal dominant type 01 | |
VHL | 3 | p25.3 | Von Hippel-Lindau syndrome | |
VLDLR | 9 | p24.2 | VLDLR-associated cerebellar hypoplasia | |
VWA3B | 2 | q11.2 | Spinocerebellar ataxia autosomal recessive type 22 | |
WDR45 | 23 | p11.23 | Beta-propeller protein-associated neurodegeneration | |
WDR81 | 17 | p13.3 | Cerebellar ataxia mental retardation and dysequilibrium syndrome type 02 | |
WFS1 | 4 | p16.1 | Wolfram syndrome | |
WWOX | 16 | q23.1-2 | Spinocerebellar ataxia autosomal recessive type 12 | |
ZNF592 | 15 | q25.3 | Autosomal recessive spinocerebellar ataxia | |