Genes associated with “ataxia”
How are genes scored? (0–100 composite)
Strong Candidates
49 genesinositol 1,4,5-trisphosphate receptor type 1
spinocerebellar ataxia type 29
EBF transcription factor 3
hypotonia, ataxia, and delayed development syndrome
calcium voltage-gated channel subunit alpha1 A
spinocerebellar ataxia type 6
ATM serine/threonine kinase
Machado-Joseph disease
spinocerebellar ataxia type 11
spinocerebellar ataxia type 13
senataxin
leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy
diacylglycerol lipase alpha
spinocerebellar ataxia type 19/22
spinocerebellar ataxia type 42
aspartyl-tRNA synthetase 2, mitochondrial
autosomal dominant cerebellar ataxia, deafness and narcolepsy
hypomyelinating leukodystrophy 6
progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
hereditary spastic paraplegia 7
neurodevelopmental disorder with cerebellar atrophy and motor dysfunction
spinocerebellar ataxia type 2
spinocerebellar ataxia, autosomal recessive 30
spastic ataxia 2
neurodegenerative disorder, X-linked, female-restricted, with parkinsonism and cognitive impairment
autosomal recessive spinocerebellar ataxia 14
argininosuccinate lyase
Pelizeaus-Merzbacher spectrum disorder
succinic semialdehyde dehydrogenase deficiency
ataxia-hypogonadism-choroidal dystrophy syndrome
cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
Joubert syndrome 1
autophagy related 7
autosomal recessive spinocerebellar ataxia 10
peroxisome biogenesis disorder 8B
syndromic X-linked intellectual disability Lubs type
EAST syndrome
Joubert syndrome 14
cerebrotendinous xanthomatosis
cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3
autosomal recessive spinocerebellar ataxia 13
Consider
138 genesJoubert syndrome 3
Joubert syndrome 8
Brown-Vialetto-van Laere syndrome 2
dystonia 5
Behr syndrome
DNA ligase 3
Marinesco-Sjogren syndrome
Sandhoff disease
spinocerebellar ataxia type 14
spastic ataxia 4
alacrima, achalasia, and intellectual disability syndrome
mitochondrial complex IV deficiency, nuclear type 3
Cayman type cerebellar ataxia
VPS41 subunit of HOPS complex
leukoencephalopathy, porphyria-related
multiple mitochondrial dysfunctions syndrome 9b
ataxia-telangiectasia-like disorder 1
glycosylphosphatidylinositol biosynthesis defect 15
progesterone immunomodulatory binding factor 1
episodic ataxia type 5
spinocerebellar ataxia type 35
neuraminidase 1
spinocerebellar ataxia 27A
X-linked sideroblastic anemia with ataxia
spinocerebellar ataxia type 38
Pitt-Hopkins syndrome
syndromic X-linked intellectual disability 5
X-linked intellectual disability-cerebellar hypoplasia syndrome
neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
Unverricht-Lundborg syndrome
coenzyme Q8A
spinocerebellar ataxia type 1
dynein cytoplasmic 1 heavy chain 1
developmental and epileptic encephalopathy, 32
Wolfram syndrome 1
calcium voltage-gated channel auxiliary subunit alpha2delta 2
fem-1 homolog C
intellectual developmental disorder 60 with seizures
spinocerebellar ataxia 48
CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 4, WITH OR WITHOUT CEREBELLAR ATAXIA; CMTX4
EPISODIC ATAXIA, TYPE 1; EA1
fragile X-associated tremor/ataxia syndrome
SPINOCEREBELLAR ATAXIA 1; SCA1
SPINOCEREBELLAR ATAXIA 7; SCA7
SPINOCEREBELLAR ATAXIA, X-LINKED 1; SCAX1
Spinocerebellar ataxia, X-linked 5
SPINOCEREBELLAR ATAXIA, X-LINKED 6, WITH OR WITHOUT SIDEROBLASTIC ANEMIA; SCAX6
X-linked intellectual disability, Cabezas type
glycosylphosphatidylinositol biosynthesis defect 18
mitochondrial complex I deficiency, nuclear type 27
cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1
mitochondrial complex I deficiency, nuclear type 3
mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
purine nucleoside phosphorylase deficiency
autosomal recessive spinocerebellar ataxia 18
mitochondrial complex I deficiency, nuclear type 17
methylthioadenosine phosphorylase
neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities
Perrault syndrome 4
Joubert syndrome 28
Bardet-Biedl syndrome 1
neuronal ceroid lipofuscinosis 5
Dysmetria
de Sanctis-Cacchione syndrome
gastrointestinal defects and immunodeficiency syndrome 2
autosomal recessive spinocerebellar ataxia 15
leukoencephalopathy with mild cerebellar ataxia and white matter edema
coenzyme Q10 deficiency, primary, 1
Ritscher-Schinzel syndrome 4
T-box brain transcription factor 1
glutamate ionotropic receptor NMDA type subunit 2B
GM1 gangliosidosis type 3
neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction
neuroferritinopathy
spinocerebellar ataxia type 26
neurodevelopmental disorder with central and peripheral motor dysfunction
congenital disorder of deglycosylation 1
pontocerebellar hypoplasia, type 11
cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2
intellectual disability-sparse hair-brachydactyly syndrome
autosomal recessive spastic paraplegia type 76
leukodystrophy, demyelinating, adult-onset, autosomal dominant, typical
exosome component 5
developmental and epileptic encephalopathy, 52
mitochondrial complex I deficiency, nuclear type 28
SRY-box transcription factor 9
PCWH syndrome
glutamate ionotropic receptor kainate type subunit 2
spinocerebellar ataxia type 31
Possible
327 genes — click to expand
action myoclonus-renal failure syndrome
nuclear export mediator factor
Joubert syndrome 35
DYRK1A-related intellectual disability syndrome
lysyl-tRNA synthetase 1
periaxin
calcium/calmodulin dependent protein kinase IV
mitochondrially encoded ATP synthase membrane subunit 6
spinocerebellar ataxia 43
SKI family transcriptional corepressor 2
histidyl-tRNA synthetase 1
Meckel syndrome 13
cortical dysplasia-focal epilepsy syndrome
spinocerebellar ataxia 45
developmental and epileptic encephalopathy, 47
ataxia-telangiectasia-like disorder 2
ATAXIA-PANCYTOPENIA SYNDROME; ATXPC
CEREBELLAR ATAXIA, IMPAIRED INTELLECTUAL DEVELOPMENT, AND DYSEQUILIBRIUM SYNDROME 1; CAMRQ1
EPISODIC ATAXIA, TYPE 2; EA2
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 2; SCAN2
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 34; SCAR34
SPASTIC ATAXIA 7, AUTOSOMAL DOMINANT; SPAX7
erb-b2 receptor tyrosine kinase 4
partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome
spastic paraplegia-severe developmental delay-epilepsy syndrome
spinocerebellar ataxia 51
encephalopathy, progressive, with amyotrophy and optic atrophy
hereditary spastic paraplegia 9A
congenital bile acid synthesis defect 6
homocystinuria-megaloblastic anemia cblD type
syndromic X-linked intellectual disability 34
intellectual disability, autosomal recessive 5
familial hemophagocytic lymphohistiocytosis 2
heat shock protein 90 beta family member 1
macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome
nephrotic syndrome 14
DnaJ heat shock protein family (Hsp40) member A2
CD5 molecule like
spinocerebellar ataxia type 4
coenzyme q10 deficiency, primary, 9
KRAB domain containing 3
progressive myoclonic epilepsy type 8
short chain acyl-CoA dehydrogenase deficiency
family with sequence similarity 210 member B
kinase suppressor of ras 1
T-box transcription factor 15
alpha-methylacyl-CoA racemase deficiency
hereditary spastic paraplegia 50
multiple mitochondrial dysfunctions syndrome 2
neurodegeneration with brain iron accumulation 4
cerebroretinal microangiopathy with calcifications and cysts 1
xeroderma pigmentosum group G
ethylmalonic encephalopathy
spondyloepimetaphyseal dysplasia, Genevieve type
Hartnup disease
Related phenotype searches
Data aggregated from HPO/Monarch, ClinVar, OMIM (phenotypes + clinical synopsis), Open Targets, PanelApp, Phen2Gene, and Gene2Phenotype. Click a gene to view full details.