| Gene |
Condition |
| ABCB7 |
Anemia, sideroblastic, with ataxia |
| ABHD12 |
Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract |
| ACO2 |
Infantile cerebellar-retinal degeneration; Optic atrophy 9 |
| AFG3L2 |
Spinocerebellar ataxia 28;
Spastic ataxia 5, autosomal recessive |
| AHI1 |
Joubert syndrome 3 |
| ANO10 |
Spinocerebellar ataxia, autosomal recessive 10 |
| APTX |
Ataxia, early-onset,
with oculomotor apraxia and hypoalbuminemia |
| ATCAY |
Ataxia, cerebellar, Cayman type |
| ATG5 |
Spinocerebellar ataxia, autosomal recessive 25 |
| ATM |
Ataxia-telangiectasia |
| ATP1A2 |
Migraine, familial hemiplegic, 2; Migraine, familial basilar |
| ATP1A3 |
Alternating hemiplegia of childhood 2;
CAPOS syndrome; Dystonia-12 |
| ATP8A2 |
Cerebellar ataxia, mental retardation,
and dysequilibrium syndrome 4 |
| ATP2B3 |
Spinocerebellar ataxia, X-linked 1 |
| CA8 |
Cerebellar ataxia and mental retardation with
or without quadrupedal locomotion 3 |
| CACNA1A |
Spinocerebellar ataxia 6; Epileptic encephalopathy, early infantile, 42;
Episodic ataxia, type 2;
Migraine, familial hemiplegic, 1 |
| CACNA1G |
Spinocerebellar ataxia 42;
Spinocerebellar ataxia 42, early-onset, severe,
with neurodevelopmental deficits |
| CACNB4 |
Episodic ataxia, type 5;
Epilepsy, idiopathic generalized, susceptibility to, 9;
Epilepsy, juvenile myoclonic, susceptibility to, 6 |
| CAMTA1 |
Spastic ataxia with variable other neurologicalfeatures |
| CAPN1 |
Spastic paraplegia 76 |
| CASK |
FG syndrome 4; Mental retardation and microcephaly
with pontine and cerebellar hypoplasia;
Mental retardation, with or without nystagmus |
| CC2D2A |
COACH syndrome; Meckel syndrome 6; Joubert syndrome 9 |
| CCDC88C |
Spinocerebellar ataxia 40;
Hydrocephalus, nonsyndromic, autosomal recessive |
| CEP290 |
Joubert syndrome 5; Leber congenital amaurosis 10;
Meckel syndrome 4; Senior-Loken syndrome 6 |
| CHP1 |
Spastic ataxia 9 |
| CHRNA4 |
Epilepsy, nocturnal frontal lobe, 1 |
| CLCN2 |
Leukoencephalopathy with ataxia;
Epilepsy, juvenile absence, susceptibility to, 2 |
| CLN5 |
Ceroid lipofuscinosis, neuronal, 5 |
| COA7 |
Spinocerebellar ataxia,
autosomal recessive, with axonal neuropathy 3 |
| C9orf72 |
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 |
| COQ2 |
Coenzyme Q10 deficiency, primary, 1 |
| COQ4 |
Coenzyme Q10 deficiency, primary, 7 |
| COQ6 |
Coenzyme Q10 deficiency, primary, 6 |
| COQ7 |
Coenzyme Q10 deficiency, primary, 8 |
| COQ9 |
Coenzyme Q10 deficiency, primary, 5 |
| COQ8A |
Coenzyme Q10 deficiency, primary, 4 |
| CPLANE1 |
Orofaciodigital syndrome VI; Joubert syndrome 17 |
| CWF19L1 |
Spinocerebellar ataxia, autosomal recessive 17 |
| CYP27A1 |
Cerebrotendinous xanthomatosis |
| DARS2 |
Leukoencephalopathy with brain stem
and spinal cord involvement and lactate elevation |
| DEPDC5 |
Epilepsy, familial focal, with variable foci 1 |
| DNMT1 |
Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant;
Neuropathy, hereditary sensory, type IE |
| EEF2 |
Spinocerebellar ataxia 26 |
| ELOVL4 |
Spinocerebellar ataxia 34;
Ichthyosis, spastic quadriplegia, and mental retardation;
Stargardt disease 3 |
| ELOVL5 |
Spinocerebellar ataxia 38 |
| FAT2 |
Spinocerebellar ataxia 45 |
| FGF14 |
Spinocerebellar ataxia 27 |
| FLVCR1 |
Ataxia, posterior column, with retinitis pigmentosa |
| FXN |
Friedreich ataxia |
| GDAP2 |
Spinocerebellar ataxia, autosomal recessive 27 |
| GOSR2 |
Epilepsy, progressive myoclonic 6 |
| GRID2 |
Spinocerebellar ataxia, autosomal recessive 18 |
| GRM1 |
Spinocerebellar ataxia 44; Spinocerebellar ataxia, autosomal recessive 13 |
| GSS |
Glutathione synthetase deficiency;
Hemolytic anemia due to glutathione synthetase deficiency |
| GSX2 |
Diencephalic-mesencephalic junction dysplasia syndrome 2 |
| IFRD1 |
Spinocerebellar ataxia 18 |
| ITPR1 |
Spinocerebellar ataxia 15;
Spinocerebellar ataxia 29, congenital nonprogressive; Gillespie syndrome |
| KCNA1 |
Episodic ataxia 1/myokymia syndrome |
| KCNC3 |
Spinocerebellar ataxia 13 |
| KCND3 |
Spinocerebellar ataxia 19; Brugada syndrome 9 |
| KCNJ10 |
SESAME syndrome; Enlarged vestibular aqueduct, digenic |
| KCNMA1 |
Epilepsy, idiopathic generalized, susceptibility to, 16;
Cerebellar atrophy, developmental delay, and seizures;
Liang-Wang syndrome; Paroxysmal nonkinesigenic dyskinesia, 3,
with or without generalized epilepsy |
| KCNQ2 |
Myokymia; Seizures, benign neonatal, 1;
Epileptic encephalopathy, early infantile, 7 |
| KIF1C |
Spastic ataxia 2 |
| LAMA1 |
Poretti-Boltshauser syndrome |
| MAN2B1 |
Mannosidosis, alpha-, types I and II |
| MARS2 |
Spastic ataxia 3;
Combined oxidative phosphorylation deficiency 25 |
| MME |
Spinocerebellar ataxia 43;
Charcot-Marie-Tooth disease, axonal, type 2T |
| MECR |
Dystonia, childhood-onset,
with optic atrophy and basal ganglia abnormalities |
| MTCL1 |
Early-onset ataxia |
| MTPAP |
Spastic ataxia 4 |
| NKX6-2 |
Spastic ataxia 8, autosomal recessive,
with hypomyelinating leukodystrophy |
| NOP56 |
Spinocerebellar ataxia 36 |
| NPC1 |
Niemann-Pick disease, type C1 |
| NPC2 |
Niemann-pick disease, type C2 |
| OFD1 |
Joubert syndrome 10; Orofaciodigital syndrome I;
Simpson-Golabi-Behmel syndrome, type 2 |
| OPHN1 |
Mental retardation, X-linked,
with cerebellar hypoplasia and distinctive facial appearance |
| PAX6 |
Cerebellar ataxia, and intellectual disability |
| PCDH12 |
Diencephalic-mesencephalic junction dysplasia syndrome 1 |
| PDSS1 |
Coenzyme Q10 deficiency, primary, 2 |
| PDSS2 |
Coenzyme Q10 deficiency, primary, 3 |
| PDYN |
Spinocerebellar ataxia 23 |
| PEX7 |
Peroxisome biogenesis disorder 9B; Rhizomelic chondrodysplasia punctata, type 1 |
| PHYH |
Refsum disease |
| PIK3R5 |
Ataxia-oculomotor apraxia 3 |
| PLD3 |
Spinocerebellar ataxia 46 |
| PMPCA |
Spinocerebellar ataxia, autosomal recessive 2 |
| PNKD |
Paroxysmal nonkinesigenic dyskinesia 1 |
| PNKP |
Ataxia-oculomotor apraxia 4;
Microcephaly, seizures, and developmental delay |
| PNPLA6 |
Spastic paraplegia 39, autosomal recessive;
Oliver-McFarlane syndrome; Boucher-Neuhauser syndrome;
Laurence-Moon syndrome |
| POLG |
Mitochondrial DNA depletion syndrome 4A;
Mitochondrial DNA depletion syndrome 4B;
Mitochondrial recessive ataxia syndrome;
Progressive external ophthalmoplegia, autosomal dominant 1;
Progressive external ophthalmoplegia, autosomal recessive 1 |
| POLR3A |
Leukodystrophy, hypomyelinating, 7,
with or without oligodontia and/or hypogonadotropic hypogonadism;
Wiedemann-Rautenstrauch syndrome |
| POLR3B |
Leukodystrophy, hypomyelinating, 8,
with or without oligodontia and/or hypogonadotropic hypogonadism |
| PRKCG |
Spinocerebellar ataxia 14 |
| PRRT2 |
Convulsions, familial infantile, with paroxysmal choreoathetosis;
Episodic kinesigenic dyskinesia 1; Seizures, benign familial infantile, 2 |
| PUM1 |
Spinocerebellar ataxia 47 |
| RUBCN |
Spinocerebellar ataxia, autosomal recessive 15 |
| PTF1A |
Pancreatic agenesis 2; Pancreatic and cerebellar agenesis |
| RNF216 |
Cerebellar ataxia and hypogonadotropic hypogonadism |
| SACS |
Spastic ataxia, Charlevoix-Saguenay type |
| SAMD9L |
Ataxia-pancytopenia syndrome |
| SCN1A |
Migraine, familial hemiplegic, 3 |
| SCN2A |
Seizures, benign familial infantile, 3;
Epileptic encephalopathy, early infantile, 11; Episodic ataxia, type 9 |
| SCN8A |
Myoclonus, familial, 2;
Cognitive impairment with or without cerebellar ataxia;
Epileptic encephalopathy, early infantile, 13; Seizures, benign familial infantile, 5 |
| SCYL1 |
Spinocerebellar ataxia, autosomal recessive 21 |
| SERAC1 |
3-methylglutaconic aciduria with deafness, encephalopathy,
and Leigh-like syndrome |
| SETX |
Spinocerebellar ataxia with axonal neuropathy 2
(ataxia-oculomotor apraxia 2); Amyotrophic lateral sclerosis 4, juvenile |
| SIL1 |
Marinesco-Sjogren syndrome |
| SLC1A3 |
Episodic ataxia, type 6 |
| SLC16A2 |
Allan-Herndon-Dudley syndrome |
| SLC2A1 |
Dystonia 9; GLUT1 deficiency syndrome 1, infantile onset, severe;
GLUT1 deficiency syndrome 2, childhood onset;
Stomatin-deficient cryohydrocytosis with neurologic defects;
Epilepsy, idiopathic generalized, susceptibility to, 12 |
| SLC25A46 |
Neuropathy, hereditary motor and sensory, type VIB |
| SLC9A1 |
Lichtenstein-Knorr syndrome |
| SLC9A6 |
Mental retardation, X-linked syndromic, Christianson type |
| SLC52A2 |
Brown-Vialetto-Van Laere syndrome 2 |
| SNX14 |
Spinocerebellar ataxia, autosomal recessive 20 |
| SPG7 |
Spastic paraplegia 7 |
| SPTBN2 |
Spinocerebellar ataxia 5;
Spinocerebellar ataxia, autosomal recessive 14 |
| SQSTM1 |
Myopathy, distal, with rimmed vacuoles;
Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset;
Paget disease of bone 3; Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 |
| STUB1 |
Spinocerebellar ataxia, autosomal recessive 16 |
| SYNE1 |
Spinocerebellar ataxia, autosomal recessive 8;
Emery-Dreifuss muscular dystrophy 4, autosomal dominant |
| SYT14 |
Spinocerebellar ataxia, autosomal recessive 11 |
| TTBK2 |
Spinocerebellar ataxia 11 |
| TDP1 |
Spinocerebellar ataxia, autosomal recessive with axonal neuropathy |
| TDP2 |
Spinocerebellar ataxia, autosomal recessive 23 |
| TGM6 |
Spinocerebellar ataxia 35 |
| THG1L |
Spinocerebellar ataxia, autosomal recessive 28 |
| TMEM231 |
Joubert syndrome 20; Meckel syndrome 11 |
| TMEM240 |
Spinocerebellar ataxia 21 |
| TPP1 |
Spinocerebellar ataxia, autosomal recessive 7;
Ceroid lipofuscinosis, neuronal, 2 |
| TRPC3 |
Spinocerebellar ataxia 41 |
| TSFM |
Combined oxidative phosphorylation deficiency 3 |
| TTC19 |
Mitochondrial complex III deficiency, nuclear type 2 |
| TTPA |
Ataxia with isolated vitamin E deficiency |
| TUBB4A |
Dystonia 4, torsion, autosomal dominant;
Leukodystrophy, hypomyelinating, 6 |
| TWNK |
Perrault syndrome 5; Mitochondrial DNA depletion syndrome 7;
Progressive external ophthalmoplegia
with mitochondrial DNA deletions, autosomal dominant 3 |
| TXN2 |
Combined oxidative phosphorylation deficiency 29 |
| UBA5 |
Spinocerebellar ataxia, autosomal recessive 24;
Epileptic encephalopathy, early infantile, 44 |
| UBR4 |
Episodic ataxia, type 8 |
| VAMP1 |
Myasthenic syndrome, congenital, 25; Spastic ataxia 1 |
| VLDLR |
Cerebellar hypoplasia and mental retardation with
or without quadrupedal locomotion 1 |
| VPS13D |
Spinocerebellar ataxia, autosomal recessive 4 |
| VWA3B |
Spinocerebellar ataxia, autosomal recessive 22 |
| WDR73 |
Galloway-Mowat syndrome 1 (spinocerebellar ataxia, autosomal recessive 5) |
| WDR81 |
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 |
| WFS1 |
Wolfram syndrome 1; Wolfram-like syndrome, autosomal dominant;
Deafness, autosomal dominant 6/14/38 |
| WWOX |
Spinocerebellar ataxia, autosomal recessive 12;
Epileptic encephalopathy, early infantile, 28 |
| XRCC1 |
Spinocerebellar ataxia, autosomal recessive 26 |
