Description
Hereditary ataxia inclusion criteria (29480)
- Unexplained cerebellar ataxia progressing over >2 years +/- spasticity, peripheral neuropathy, or bulbar dysfunction.

Individuals with syndromic disease or disease onset <30 years should be recruited according to standard guidance, typically as trios. Disease status of apparently unaffected participants should be determined according to standard clinical practice to detect cryptic disease.  

In other cases, unaffected individuals should not be recruited. Recruitment in such families should favour multiplex families over single isolated cases. These singleton recruits will not contribute to the overall singleton monitoring metrics applied to GMCs.

Hereditary ataxia exclusion criteria (29480)
- No structural or inflammatory (MS-like) lesions on brain MRI.
- No history of alcohol excess.
- Normal thyroid function.
- No evidence of malignancy.

Prior genetic testing guidance (29480)
- Results should have been reviewed for all genetic tests undertaken, including disease-relevant genes in exome sequencing data. The patient is not eligible if they have a molecular diagnosis for their condition. 
- Genetic testing should continue according to routine local practice for this phenotype regardless of recruitment to the project; results of these tests must be submitted via the ‘Genetic investigations’ section of the data capture tool to allow comparison of WGS with current standard testing.  

PLEASE NOTE: The sensitivity of WGS compared to current diagnostic genetic testing has not yet been established. It is therefore important that tests which are clinically indicated under local standard practice continue to be carried out.

Hereditary ataxia prior genetic testing genes (29480)
Testing for genes which are affected by trinucleotide repeats is strongly recommended PRIOR TO RECRUITMENT as these will not be reliably detected by WGS using current analysis techniques including:
- Common trinucleotide repeat disorders excluded (ATXN1, ATXN2, ATXN3, CACNA1A, ATXN7, TBP, ATN1, FXN (only recessive history), FMR1.

Closing statement (29480)
These requirements will be kept under continual review during the main programme and may be subject to change.


12 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: other
    Workplace: other

  • Jonathan Williams (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS diagnostic lab

  • Richard Scott (Genomics England Curator)

    Group: Other
    Workplace: Genomics England

  • emma baple (Genomics England Curator)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS clinical service

  • Damian Smedley (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Sarah Leigh (Genomics England Curator)

    Group: Other
    Workplace: Other

  • alisdair mcneill (Sheffield childrens hospital)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS clinical service

  • Rebecca Foulger (Genomics England curator)

    Group: Other
    Workplace: Other

  • Alice Gardham (Genomics England)

    Group: Other
    Workplace: Other

  • Louise Daugherty (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Arianna Tucci (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Eleanor Williams (Genomics England Curator)

    Group: Other
    Workplace: Other

160 genes

160 reviewed, 116 green

List Gene Reviews Mode of inheritance Details
160 genes
Green Green List (high evidence)
COQ8A
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Coenzyme Q10 deficiency, Spinocerebellar Ataxia Type
Green Green List (high evidence)
MRE11
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Expert Review Green
Phenotypes
  • Ataxia-Telangiectasia-Like Disorder
  • Ataxia-telangiectasia-like disorder
Green Green List (high evidence)
TWNK
3 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Ataxia Neuropathy Spectrum Disorders (Dominant)
  • Spinocerebellar Ataxia, Recessive
Green Green List (high evidence)
AAAS
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
Green Green List (high evidence)
ABCB7
2 reviews
1 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Anemia, sideroblastic, with ataxia,
  • Sideroblastic Anemia and Ataxia
Green Green List (high evidence)
ABHD12
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract
  • Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa and Cataract (PHARC)
Green Green List (high evidence)
AFG3L2
3 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Spinocerebellar ataxia 28
  • Ataxia, spastic, 5, autosomal recessive
  • Spinocerebellar Ataxia, Dominant
Green Green List (high evidence)
AMPD2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Pontocerebellar hypoplasia 9 (#615809)
  • Spastic paraplegia homozygous frameshift reported in single family (Novarino et al, 2014).
Green Green List (high evidence)
ANO10
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 10,
Green Green List (high evidence)
AP1S2
2 reviews
1 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • UKGTN
Green Green List (high evidence)
APTX
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Ataxia with Oculomotor Apraxia
  • Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
Green Green List (high evidence)
ARSA
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Metachromatic leukodystrophy (#250100)
Green Green List (high evidence)
ATCAY
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Ataxia, cerebellar, Cayman type
  • Cerebellar Ataxia, Cayman type
Green Green List (high evidence)
ATM
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • UKGTN
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Ataxia-Telangiectasia
  • Ataxia-telangiectasia,
Green Green List (high evidence)
ATP1A3
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorineural hearing loss (CAPOS, #601338)
  • Alternating hemiplegia of childhood 2 (#614820) and Dystonia 12 (#128235)
Green Green List (high evidence)
CA8
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
  • Expert Review Green
Phenotypes
  • Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3
Green Green List (high evidence)
CACNA1A
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Episodic ataxia, type 2
  • Spinocerebellar ataxia 6
  • Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia
Tags
  • nucleotide-repeat-expansion
Green Green List (high evidence)
CACNA1G
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Green Green List (high evidence)
CAMTA1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Cerebellarataxia,nonprogressive,withmentalretardation,614756 3
Green Green List (high evidence)
CASK
2 reviews
1 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • UKGTN
Green Green List (high evidence)
CHMP1A
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Pontocerebellar hypoplasia 8 (#614961)
Green Green List (high evidence)
CLCN2
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Leukoencephalopathy with ataxia, 615651
  • {Epilepsy, juvenile myoclonic, susceptibility to, 8}, 607628
  • {Epilepsy, juvenile absence, susceptibility to, 2}, 607628
  • {Epilepsy, idiopathic generalized, susceptibility to, 11}, 607628
Green Green List (high evidence)
CLN6
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Neuronal ceroid lipofuscinosis 6 (#601780) and adult onset form (#204300)
Green Green List (high evidence)
COX20
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
Green Green List (high evidence)
CP
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
  • Expert Review Green
Phenotypes
  • Cerebellar ataxia,
Green Green List (high evidence)
CWF19L1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Green Green List (high evidence)
CYP27A1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
Green Green List (high evidence)
CYP2U1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Autosomal recessive spastic paraplegia 56 (#615030) complex form of disorder, ataxia not yet identified in affected patients.
Green Green List (high evidence)
DARS2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
Green Green List (high evidence)
DDHD2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Autosomal recessive paraplegia 54 (#615033). Complex form of disease ataxia reported amongst the phenotypic features in Citterio et al. (2014), Journal of Neurology, 261, pp.373-381 and Doi et al. (2014), Scientific Reports, 4, 7132.
Green Green List (high evidence)
DNAJC19
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • 3-methylglutaconic aciduria, type V 610198
  • dilated cardiomyopathy with ataxia (DCMA) syndrome
Green Green List (high evidence)
DNAJC5
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Literature
  • Expert Review
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 4, Parry type 162350
Green Green List (high evidence)
DNMT1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant,
Green Green List (high evidence)
EIF2B1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
Phenotypes
  • Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease
  • Childhood Ataxia with Central Nervous System Hypomyelination/Vanishing White Matter
Green Green List (high evidence)
EIF2B2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
Phenotypes
  • Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease
Green Green List (high evidence)
EIF2B3
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
Phenotypes
  • Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease
Green Green List (high evidence)
EIF2B4
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
Phenotypes
  • Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease
Green Green List (high evidence)
EIF2B5
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease
Green Green List (high evidence)
ELOVL4
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Spinocerebellar ataxia 34 133190
Green Green List (high evidence)
EPM2A
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • UKGTN
  • Expert Review
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
Phenotypes
  • Epilepsy, progressive myoclonic 2A (Lafora) 254780
Green Green List (high evidence)
EXOSC3
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Green Green List (high evidence)
FGF14
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Spinocerebellar ataxia 27
Green Green List (high evidence)
FLVCR1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Expert Review Green
Phenotypes
  • Ataxia, posterior column, with retinitis pigmentosa,
  • Posterior Column Ataxia with Retinitis Pigmentosa
Green Green List (high evidence)
FMR1
2 reviews
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
Phenotypes
  • FMR1-related disorders include fragile X syndrome, fragile X-associated tremor/ataxia syndrome (FXTAS), and FMR1-related premature ovarian insufficiency (POI)
  • FragileXtremor/ataxiasyndrome,300623
  • males with a tremor phenotype
Tags
  • nucleotide-repeat-expansion
Green Green List (high evidence)
FOLR1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
Green Green List (high evidence)
FXN
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • UKGTN
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Friedreichataxia,229300Friedreichataxiawithretainedreflexes,229300
Tags
  • nucleotide-repeat-expansion
Green Green List (high evidence)
GBA2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
Green Green List (high evidence)
GFAP
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Autosomal Dominant Ataxia
  • Alexander disease
Green Green List (high evidence)
GJC2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Autosomal Recessive Ataxia
  • Leukodystrophy, hypomyelinating, 2
Green Green List (high evidence)
GOSR2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
Green Green List (high evidence)
GPAA1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Glycosylphosphatidylinositol biosynthesis defect 15, 617810
Green Green List (high evidence)
GRID2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Autosomal recessive spinocerebellar ataxia 18 (#616204)
  • Rare cases of autosomal dominant inheritance reported by Coutelier et al., 2015.
Green Green List (high evidence)
GRM1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
  • Expert Review Green
  • UKGTN
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 13
Green Green List (high evidence)
HEXA
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
Green Green List (high evidence)
HEXB
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
Green Green List (high evidence)
ITPR1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Expert Review Green
  • UKGTN
Phenotypes
  • Spinocerebellar ataxia 29
  • Spinocerebellar ataxia 15
Green Green List (high evidence)
KCNA1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Episodic ataxia/myokymia syndrome,
Green Green List (high evidence)
KCNC3
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Expert Review Green
Phenotypes
  • Spinocerebellar ataxia 13
Green Green List (high evidence)
KCND3
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Spinocerebellarataxia19,607346
Green Green List (high evidence)
KCNJ10
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance Syndrome
Green Green List (high evidence)
KIF1C
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Spastic ataxia 2,autosomal recessive
Green Green List (high evidence)
MARS2
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Spastic ataxia 3, autosomal recessive
Tags
  • gene-duplication
  • cnv
Green Green List (high evidence)
MMACHC
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ataxia and hypogonadism (AR), Also Methylmalonic aciduria and homocystinuria (AR) (OMIM #277400)
Green Green List (high evidence)
MT-ATP6
2 reviews
1 green
MITOCHONDRIAL
Sources
  • Expert Review Green
  • UKGTN
  • Emory Genetics Laboratory
Phenotypes
  • Neuropathy, Ataxia, and Retinitis Pigmentosa
Green Green List (high evidence)
MTTP
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Abetalipoproteinemia, 200100
Green Green List (high evidence)
NHLRC1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Literature
  • Illumina TruGenome Clinical Sequencing Services
  • Expert Review
  • Emory Genetics Laboratory
Phenotypes
  • Epilepsy, progressive myoclonic 2B (Lafora) 254780
Green Green List (high evidence)
NKX6-2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy 617560
Green Green List (high evidence)
NPC1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Niemann-Pick disease types C1 and D (#257220)
Green Green List (high evidence)
NPC2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Niemann-Pick disease type C2 (#607625)
Green Green List (high evidence)
OPA3
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
  • Other
Phenotypes
  • 3-methylglutaconic aciduria, type III, 258501
  • Costeff syndrome
Green Green List (high evidence)
OPHN1
3 reviews
1 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • UKGTN
Green Green List (high evidence)
PAX6
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Aniridia, Cerebellar Ataxia, And Mental Retardation
Green Green List (high evidence)
PDYN
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Radboud University Medical Center, Nijmegen
  • Expert Review Green
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Spinocerebellar ataxia 23
Green Green List (high evidence)
PEX16
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Peroxisome biogenesis disorder 8B (#614877) infantile progressive ataxia and spastic paresis
  • Zellweger syndrome (614876)
Green Green List (high evidence)
PLA2G6
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Infantile neuroaxonal dystrophy 1 (#256600)
  • Neurodegeneration with brain iron accumulation 2B (#610217)
  • Parkinson disease 14 (#612953)
Green Green List (high evidence)
PMPCA
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Non-progressive cerebellar ataxia recessive variants identified in 17 patients from four different families.
Green Green List (high evidence)
PNKP
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ataxia with oculomotor apraxia 4 (#616267)
Green Green List (high evidence)
PNPLA6
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Autosomal recessive spastic paraplegia 39 (#612020), ataxia seen in some patients
  • Spinocerebellar ataxia, hypogonadotropic hypogonadism and chorioretinal dystrophy (Boucher-Neuhauser syndrome, #215470)
  • Oliver-McFarlane syndrome (#603197)
Green Green List (high evidence)
POLG
3 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Expert Review Green
Phenotypes
  • Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE)
Green Green List (high evidence)
POLR3A
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Autosomal Recessive Ataxia
  • Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism
Green Green List (high evidence)
PRKCG
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Expert Review Green
  • UKGTN
Phenotypes
  • Spinocerebellar ataxia 14
Green Green List (high evidence)
PRNP
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Autosomal Dominant Ataxia
  • Creutzfeldt-Jakob disease
  • Gerstmann-Straussler disease
  • Huntington disease-like 1
  • Insomnia, fatal familial
Green Green List (high evidence)
PRRT2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • UKGTN
Green Green List (high evidence)
RARS2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Pontocerebellar hypoplasia
  • epilepsy
Green Green List (high evidence)
RNF170
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Expert Review Green
Phenotypes
  • Ataxia, sensory, 1, autosomal dominant
Green Green List (high evidence)
RNF216
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Cerebellar ataxia and hypogonadotropic hypogonadism, 212840
Green Green List (high evidence)
SACS
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Spastic ataxia, Charlevoix-Saguenay type
Green Green List (high evidence)
SAR1B
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Chylomicron retention disease 246700
Tags
  • treatable
Green Green List (high evidence)
SEPSECS
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Pontocerebellar hypoplasia type 2D (613811)
Green Green List (high evidence)
SETX
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • ataxia with oculomotor apraxia type 2 (AOA2), juvenile amyotrophic lateral sclerosis (ALS4) and autosomal dominant ataxia
  • Ataxia-ocular apraxia-2
Green Green List (high evidence)
SIL1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
Green Green List (high evidence)
SLC1A3
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Episodic ataxia, type 6,
Green Green List (high evidence)
SLC2A1
3 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
Green Green List (high evidence)
SLC9A6
2 reviews
1 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • UKGTN
Green Green List (high evidence)
SNX14
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Autosomal recessive spinocerebellar ataxia (#616354)
Green Green List (high evidence)
SPG7
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Spastic paraplegia 7 (#607259) complex forms of the disease. Actually associated with a range of phenotypes including adult-onset ataxia
Green Green List (high evidence)
SPTBN2
3 reviews
1 green 1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Spinocerebellar ataxia 5
  • Spinocerebellar ataxia, autosomal recessive 14
  • Spinocerebellar Ataxia, Dominant
  • SPINOCEREBELLAR ATAXIA 5 (autosomal dominant)
  • SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14
Green Green List (high evidence)
SRD5A3
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
Green Green List (high evidence)
STUB1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 16
Green Green List (high evidence)
SYNE1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Cerebellar Ataxia
  • Spinocerebellar ataxia, autosomal recessive 8
Green Green List (high evidence)
TGM6
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Spinocerebellar ataxia 35
Green Green List (high evidence)
TMEM240
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Spinocerebellar ataxia 21 (#616101)
Green Green List (high evidence)
TPP1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Autosomal recessive spinocerebellar ataxia 7 (#607998)
  • Neuronal ceroid lipfuscinosis 7 (204500)
Green Green List (high evidence)
TSEN2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Pontocerebellar hypoplasia 2B (612389)
Green Green List (high evidence)
TSEN54
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Pontocerebellar hypoplasia 2A (#277470) and 4 (#225753)
Green Green List (high evidence)
TTBK2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Spinocerebellar ataxia 11
Green Green List (high evidence)
TTC19
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Nuclear type mitochondrial complex III deficiency (#615157)
Green Green List (high evidence)
TTPA
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Ataxia with Vitamin E Deficiency
  • Ataxia with isolated vitamin E deficiency
Green Green List (high evidence)
TUBB4A
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Implicated autosomal dominant variants in two families with ataxia
  • Torsion dystonia 4 (128101) - some individuals with ataxia
  • hypomyelinating leukodystrophy 6 (612438) - ataxia reported.
Green Green List (high evidence)
VLDLR
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
Green Green List (high evidence)
VPS13D
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Research
  • Expert Review Green
Phenotypes
  • spastic ataxia
Green Green List (high evidence)
VRK1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Pontocerebellar hypoplasia 1A (#607596)
Green Green List (high evidence)
WDR73
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Galloway Mowat syndrome, when patients are ambulant ataxia is a recognisednfeature
Green Green List (high evidence)
WDR81
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
  • Expert Review Green
  • UKGTN
Phenotypes
  • Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2
Green Green List (high evidence)
WFS1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
Green Green List (high evidence)
WWOX
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Autosomal recessive spinocerebellar ataxia 12 (#614322)
Amber Amber List (moderate evidence)
COG5
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Congenital disorder of glycosylation, type IIi 613612
Amber Amber List (moderate evidence)
DMXL2
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Other
Phenotypes
  • Sensorineural Hearing Loss
  • ORPHA90636
  • OMIM:612186
Amber Amber List (moderate evidence)
MVK
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Mevalonic aciduria 610377
Amber Amber List (moderate evidence)
VAMP1
4 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Spastic ataxia 1, autosomal dominant, 108600
Tags
  • watchlist
Red Red List (low evidence)
AARS
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • UKGTN
  • Expert Review Red
Red Red List (low evidence)
ALAS2
1 review
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Expert Review Red
Red Red List (low evidence)
ATN1
4 reviews
Other - please specifiy in evaluation comments
Sources
  • Expert Review Red
  • Eligibility statement prior genetic testing
Tags
  • currently-ngs-unreportable
  • nucleotide-repeat-expansion
Red Red List (low evidence)
ATP2B3
2 reviews
1 red
Not set
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Spinocerebellar ataxia, X-linked 1
Red Red List (low evidence)
ATP8A2
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • UKGTN
Red Red List (low evidence)
ATXN1
3 reviews
Not set
Sources
  • UKGTN
  • Expert Review Red
  • Eligibility statement prior genetic testing
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Spinocerebellarataxia1,164400
Tags
  • currently-ngs-unreportable
  • nucleotide-repeat-expansion
Red Red List (low evidence)
ATXN10
4 reviews
Not set
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Spinocerebellarataxia10,603516
Tags
  • watchlist
  • currently-ngs-unreportable
  • nucleotide-repeat-expansion
Red Red List (low evidence)
ATXN2
3 reviews
Not set
Sources
  • Eligibility statement prior genetic testing
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert Review Red
Phenotypes
  • Spinocerebellarataxia2,183090{Amyotrophiclateralsclerosis,susceptibilityto,13},183090
Tags
  • currently-ngs-unreportable
  • nucleotide-repeat-expansion
Red Red List (low evidence)
ATXN3
4 reviews
Not set
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Red
Tags
  • currently-ngs-unreportable
  • nucleotide-repeat-expansion
Red Red List (low evidence)
ATXN7
4 reviews
Not set
Sources
  • Expert Review Red
  • Eligibility statement prior genetic testing
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Spinocerebellarataxia7,164500
Tags
  • currently-ngs-unreportable
  • nucleotide-repeat-expansion
Red Red List (low evidence)
ATXN8
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
Phenotypes
  • Spinocerebellar ataxia 8 608768
Tags
  • currently-ngs-unreportable
  • nucleotide-repeat-expansion
Red Red List (low evidence)
BEAN1
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Literature
Phenotypes
  • Spinocerebellar ataxia 31 117210
Tags
  • structural-variant
  • currently-ngs-unreportable
  • nucleotide-repeat-expansion
Red Red List (low evidence)
CACNB4
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Expert Review Red
Phenotypes
  • Episodic ataxia, type 5
  • Episodic Ataxia
Red Red List (low evidence)
CCDC88C
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Phenotypes
  • autosomal dominant spinocerebellar ataxia
Red Red List (low evidence)
CLP1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Pontocerebellar hypoplasia 10 (#615803)
Red Red List (low evidence)
CSTB
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
Phenotypes
  • Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), 254800
Red Red List (low evidence)
DAB1
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
Phenotypes
  • Spinocerebellar ataxia 37 615945
Tags
  • founder-effect
  • currently-ngs-unreportable
  • nucleotide-repeat-expansion
Red Red List (low evidence)
DYNC1H1
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Charcot Marie Tooth, SMA, Intellectual disability
Red Red List (low evidence)
ELOVL5
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Phenotypes
  • Spinocerebellar ataxia 36 (#615957)
Red Red List (low evidence)
MTPAP
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Ataxia, spastic, 4,
Red Red List (low evidence)
NAGLU
2 reviews
1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Sensory neuropathy turning into a mild sensory ataxia (AD). Also Sanfilippo syndrome B (AR) (OMIM #252920)
Red Red List (low evidence)
NOP56
3 reviews
Other - please specifiy in evaluation comments
Sources
  • Radboud University Medical Center, Nijmegen
  • Expert Review Red
Phenotypes
  • Spinocerebellarataxia36,614153
Tags
  • currently-ngs-unreportable
  • nucleotide-repeat-expansion
Red Red List (low evidence)
PAX2
2 reviews
Not set
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Ataxia,spastic2,autosomalrecessive(2)
Red Red List (low evidence)
PCLO
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Pontocerebellar hypoplasia 3 homozygous non-sense variant identified in the affected individuals of a single pedigree.
Red Red List (low evidence)
PIK3R5
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Ataxia-oculomotor apraxia 3
Red Red List (low evidence)
PPP2R2B
3 reviews
Not set
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Spinocerebellarataxia12,604326
Tags
  • watchlist
  • currently-ngs-unreportable
  • nucleotide-repeat-expansion
Red Red List (low evidence)
PRICKLE1
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Progressive Myoclonus Epilepsy with Ataxia
Red Red List (low evidence)
RELN
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • UKGTN
Red Red List (low evidence)
RUBCN
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • UKGTN
  • Expert Review Red
Red Red List (low evidence)
SCN8A
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert Review Red
Phenotypes
  • Cognitive impairment with or without cerebellar ataxia, 614306
Red Red List (low evidence)
SYT14
3 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Spinocerebellarataxia,autosomalrecessive11,614229
Red Red List (low evidence)
TBP
4 reviews
Not set
Sources
  • UKGTN
  • Expert Review Red
  • Eligibility statement prior genetic testing
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Spinocerebellarataxia17,607136{Parkinsondisease,susceptibilityto},168600
Tags
  • currently-ngs-unreportable
  • nucleotide-repeat-expansion
Red Red List (low evidence)
TDP1
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive with axonal neuropathy
Red Red List (low evidence)
TSEN34
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Pontocerebellar hypoplasia 2C (612390)
Red Red List (low evidence)
UBR4
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Phenotypes
  • Episodic ataxia
Red Red List (low evidence)
UCHL1
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Early onset ataxia and optic neuropathy
Red Red List (low evidence)
VPS53
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Pontocerebellar hypoplasia 2E (#615851)
Red Red List (low evidence)
XRCC1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • ocular motor apraxia, axonal neuropathy, and progressive cerebellar ataxia
Red Red List (low evidence)
ZFYVE26
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Autosomal recessive spastic paraplegia 15 (#270700) complex form of the disease including ataxia. Pyle et al. (2015), Brain, 138, pp.276-283. Implicated in undiagnosed ataxia.
Red Red List (low evidence)
ZNF592
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 5

12 STRs

12 reviewed, 3 green

List STR Reviews Mode of inheritance Details
12 STRss
Green Green List (high evidence)
PPP2R2B_CAG
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Spinocerebellar ataxia 12 604326
Tags
  • STR
Green Green List (high evidence)
ATN1_CAG
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Dentatorubro-pallidoluysian atrophy 125370
Tags
  • STR
Green Green List (high evidence)
CACNA1A_CAG
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Spinocerebellar ataxia 6 183086
Tags
  • STR
Red Red List (low evidence)
ATXN10_ATTCT
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
Phenotypes
  • Spinocerebellar ataxia , 603516
Tags
  • STR
Red Red List (low evidence)
ATXN1_CAG
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
Phenotypes
  • Spinocerebellar ataxia 1 164400
Tags
  • STR
Red Red List (low evidence)
ATXN2_CAG
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
Phenotypes
  • Spinocerebellar ataxia 2 183090
Tags
  • STR
Red Red List (low evidence)
ATXN3_CAG
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
Phenotypes
  • Machado-Joseph disease 109150
Tags
  • STR
Red Red List (low evidence)
ATXN7_CAG
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
Phenotypes
  • Spinocerebellar ataxia 7 164500
Tags
  • STR
Red Red List (low evidence)
FMR1_CGG
1 review
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert list
Phenotypes
  • Fragile X syndrome 300624
Tags
  • STR
Red Red List (low evidence)
FXN_GAA
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Friedreich ataxia 229300
Tags
  • STR
Red Red List (low evidence)
NOP56_GGCCTG
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
Phenotypes
  • Spinocerebellar ataxia 36 614153
Tags
  • STR
Red Red List (low evidence)
TBP_CAG
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
Phenotypes
  • Spinocerebellar ataxia 17 607136
Tags
  • STR

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