| 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 | |