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

175 Entities

172 reviewed, 119 green

List Entity Reviews Mode of inheritance Details
175 Entitiess
Green Green List (high evidence)
COQ8A
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Coenzyme Q10 deficiency, Spinocerebellar Ataxia Type
Tags
Green Green List (high evidence)
15q11q13 recurrent (PWS/AS) region (BP1-BP3, Class 1) Loss
ISCA-37404-Loss
Region
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • ClinGen
  • Expert Review Green
Phenotypes
  • microcephaly
  • Developmental delay, muscle weakness
  • Mental retardation
  • Angelman syndrome
  • 176270
  • Prader-Willi syndrome
  • 105831
Tags
Green Green List (high evidence)
15q11q13 recurrent (PWS/AS) region (BP2-BP3, Class 2) Gain
ISCA-37478-Gain
Region
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • ClinGen
  • Expert Review Green
Phenotypes
  • hypotonia and motor delays, intellectual disability, autism spectrum disorder (ASD), and epilepsy including infantile spasms, 608636
  • chromosome 15q11-q13 duplication syndrome
  • autism, mental retardation, ataxia, seizures, developmental delays, and behavioral problems
Tags
Green Green List (high evidence)
15q11q13 recurrent (PWS/AS) region (BP2-BP3, Class 2) Loss
ISCA-37478-Loss
Region
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • ClinGen
  • Expert Review Green
Phenotypes
  • microcephaly
  • Developmental delay, muscle weakness
  • Mental retardation
  • Angelman syndrome
  • 176270
  • Prader-Willi syndrome
  • 105830
Tags
Green Green List (high evidence)
MRE11
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Ataxia-Telangiectasia-Like Disorder
  • Ataxia-telangiectasia-like disorder
Tags
Green Green List (high evidence)
PPP2R2B_CAG
STR
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)
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
Tags
Green Green List (high evidence)
AAAS
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
Tags
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
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Anemia, sideroblastic, with ataxia,
  • Sideroblastic Anemia and Ataxia
Tags
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)
Tags
Green Green List (high evidence)
AFG3L2
3 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Spinocerebellar ataxia 28
  • Ataxia, spastic, 5, autosomal recessive
  • Spinocerebellar Ataxia, Dominant
Tags
Green Green List (high evidence)
AMPD2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Pontocerebellar hypoplasia 9 (#615809)
  • Spastic paraplegia homozygous frameshift reported in single family (Novarino et al, 2014).
Tags
Green Green List (high evidence)
ANO10
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 10,
Tags
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
Tags
Green Green List (high evidence)
APTX
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Ataxia with Oculomotor Apraxia
  • Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
Tags
Green Green List (high evidence)
ARSA
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Metachromatic leukodystrophy (#250100)
Tags
Green Green List (high evidence)
ATCAY
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Ataxia, cerebellar, Cayman type
  • Cerebellar Ataxia, Cayman type
Tags
Green Green List (high evidence)
ATM
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Ataxia-Telangiectasia
  • Ataxia-telangiectasia,
Tags
Green Green List (high evidence)
ATN1_CAG
STR
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)
ATP1A3
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert List
  • 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)
Tags
Green Green List (high evidence)
CA8
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3
Tags
Green Green List (high evidence)
CACNA1A
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • 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)
CACNA1A_CAG
STR
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Spinocerebellar ataxia 6 183086
Tags
  • STR
Green Green List (high evidence)
CACNA1G
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review
  • Expert Review Green
Tags
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
Tags
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
Tags
Green Green List (high evidence)
CHMP1A
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Pontocerebellar hypoplasia 8 (#614961)
Tags
Green Green List (high evidence)
CLCN2
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
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
Tags
Green Green List (high evidence)
CLN6
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Neuronal ceroid lipofuscinosis 6 (#601780) and adult onset form (#204300)
Tags
Green Green List (high evidence)
COX20
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
Tags
Green Green List (high evidence)
CP
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Cerebellar ataxia,
Tags
Green Green List (high evidence)
CWF19L1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Tags
Green Green List (high evidence)
CYP27A1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
Tags
Green Green List (high evidence)
CYP2U1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Autosomal recessive spastic paraplegia 56 (#615030) complex form of disorder, ataxia not yet identified in affected patients.
Tags
Green Green List (high evidence)
DARS2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
Tags
Green Green List (high evidence)
DDHD2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • 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.
Tags
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
Tags
Green Green List (high evidence)
DNAJC5
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review
  • Illumina TruGenome Clinical Sequencing Services
  • Literature
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 4, Parry type 162350
Tags
Green Green List (high evidence)
DNMT1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant,
Tags
Green Green List (high evidence)
EIF2B1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease
  • Childhood Ataxia with Central Nervous System Hypomyelination/Vanishing White Matter
Tags
Green Green List (high evidence)
EIF2B2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease
Tags
Green Green List (high evidence)
EIF2B3
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease
Tags
Green Green List (high evidence)
EIF2B4
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease
Tags
Green Green List (high evidence)
EIF2B5
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease
Tags
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
Tags
Green Green List (high evidence)
EPM2A
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Epilepsy, progressive myoclonic 2A (Lafora) 254780
Tags
Green Green List (high evidence)
EXOSC3
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Tags
Green Green List (high evidence)
FGF14
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Spinocerebellar ataxia 27
Tags
Green Green List (high evidence)
FLVCR1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Ataxia, posterior column, with retinitis pigmentosa,
  • Posterior Column Ataxia with Retinitis Pigmentosa
Tags
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
  • Eligibility statement prior genetic testing
  • Emory Genetics Laboratory
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
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
Tags
Green Green List (high evidence)
FXN
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
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
Tags
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
Tags
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
Tags
Green Green List (high evidence)
GOSR2
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
Phenotypes
  • Epilepsy, progressive myoclonic 6, 614018
Tags
Green Green List (high evidence)
GPAA1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Glycosylphosphatidylinositol biosynthesis defect 15, 617810
Tags
Green Green List (high evidence)
GRID2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Autosomal recessive spinocerebellar ataxia 18 (#616204)
  • Rare cases of autosomal dominant inheritance reported by Coutelier et al., 2015.
Tags
Green Green List (high evidence)
GRM1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 13
Tags
Green Green List (high evidence)
HEXA
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
Tags
Green Green List (high evidence)
HEXB
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
Tags
Green Green List (high evidence)
ITPR1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Spinocerebellar ataxia 29
  • Spinocerebellar ataxia 15
Tags
Green Green List (high evidence)
KCNA1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Episodic ataxia/myokymia syndrome,
Tags
Green Green List (high evidence)
KCNC3
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Spinocerebellar ataxia 13
Tags
Green Green List (high evidence)
KCND3
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Spinocerebellarataxia19,607346
Tags
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
Tags
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
Tags
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
  • cnv
  • gene-duplication
Green Green List (high evidence)
MMACHC
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert review
Phenotypes
  • Ataxia and hypogonadism (AR), Also Methylmalonic aciduria and homocystinuria (AR) (OMIM #277400)
Tags
Green Green List (high evidence)
MT-ATP6
2 reviews
1 green
MITOCHONDRIAL
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • UKGTN
Phenotypes
  • Neuropathy, Ataxia, and Retinitis Pigmentosa
Tags
Green Green List (high evidence)
MTTP
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Abetalipoproteinemia, 200100
Tags
Green Green List (high evidence)
NHLRC1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review
  • Illumina TruGenome Clinical Sequencing Services
  • Literature
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Epilepsy, progressive myoclonic 2B (Lafora) 254780
Tags
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
Tags
Green Green List (high evidence)
NPC1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Niemann-Pick disease types C1 and D (#257220)
Tags
Green Green List (high evidence)
NPC2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Niemann-Pick disease type C2 (#607625)
Tags
Green Green List (high evidence)
OPA3
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Other
Phenotypes
  • 3-methylglutaconic aciduria, type III, 258501
  • Costeff syndrome
Tags
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
Tags
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
Tags
Green Green List (high evidence)
PDYN
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Spinocerebellar ataxia 23
Tags
Green Green List (high evidence)
PEX16
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Peroxisome biogenesis disorder 8B (#614877) infantile progressive ataxia and spastic paresis
  • Zellweger syndrome (614876)
Tags
Green Green List (high evidence)
PLA2G6
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Infantile neuroaxonal dystrophy 1 (#256600)
  • Neurodegeneration with brain iron accumulation 2B (#610217)
  • Parkinson disease 14 (#612953)
Tags
Green Green List (high evidence)
PMPCA
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Non-progressive cerebellar ataxia recessive variants identified in 17 patients from four different families.
Tags
Green Green List (high evidence)
PNKP
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Ataxia with oculomotor apraxia 4 (#616267)
Tags
Green Green List (high evidence)
PNPLA6
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • 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)
Tags
Green Green List (high evidence)
POLG
3 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE)
Tags
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
Tags
Green Green List (high evidence)
PRKCG
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Spinocerebellar ataxia 14
Tags
Green Green List (high evidence)
PRNP
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Autosomal Dominant Ataxia
  • Creutzfeldt-Jakob disease
  • Gerstmann-Straussler disease
  • Huntington disease-like 1
  • Insomnia, fatal familial
Tags
Green Green List (high evidence)
PRRT2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • UKGTN
Tags
Green Green List (high evidence)
RARS2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Pontocerebellar hypoplasia
  • epilepsy
Tags
Green Green List (high evidence)
RNF170
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Ataxia, sensory, 1, autosomal dominant
Tags
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
Tags
Green Green List (high evidence)
SACS
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Spastic ataxia, Charlevoix-Saguenay type
Tags
Green Green List (high evidence)
SAR1B
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Chylomicron retention disease 246700
Tags
  • treatable
Green Green List (high evidence)
SEPSECS
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Pontocerebellar hypoplasia type 2D (613811)
Tags
Green Green List (high evidence)
SETX
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • ataxia with oculomotor apraxia type 2 (AOA2), juvenile amyotrophic lateral sclerosis (ALS4) and autosomal dominant ataxia
  • Ataxia-ocular apraxia-2
Tags
Green Green List (high evidence)
SIL1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
Tags
Green Green List (high evidence)
SLC1A3
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Episodic ataxia, type 6,
Tags
Green Green List (high evidence)
SLC2A1
3 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
Tags
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
Tags
Green Green List (high evidence)
SNX14
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Autosomal recessive spinocerebellar ataxia (#616354)
Tags
Green Green List (high evidence)
SPG7
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Spastic paraplegia 7 (#607259) complex forms of the disease. Actually associated with a range of phenotypes including adult-onset ataxia
Tags
Green Green List (high evidence)
SPTBN2
4 reviews
1 green 1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Spinocerebellar ataxia 5
  • Spinocerebellar ataxia, autosomal recessive 14
  • Spinocerebellar Ataxia, Dominant
  • SPINOCEREBELLAR ATAXIA 5 (autosomal dominant)
  • SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14
Tags
Green Green List (high evidence)
SRD5A3
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
Tags
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
Tags
Green Green List (high evidence)
SYNE1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Cerebellar Ataxia
  • Spinocerebellar ataxia, autosomal recessive 8
Tags
Green Green List (high evidence)
TGM6
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Spinocerebellar ataxia 35
Tags
Green Green List (high evidence)
TMEM240
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Spinocerebellar ataxia 21 (#616101)
Tags
Green Green List (high evidence)
TPP1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Autosomal recessive spinocerebellar ataxia 7 (#607998)
  • Neuronal ceroid lipfuscinosis 7 (204500)
Tags
Green Green List (high evidence)
TSEN2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Pontocerebellar hypoplasia 2B (612389)
Tags
Green Green List (high evidence)
TSEN54
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Pontocerebellar hypoplasia 2A (#277470) and 4 (#225753)
Tags
Green Green List (high evidence)
TTBK2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Spinocerebellar ataxia 11
Tags
Green Green List (high evidence)
TTC19
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Nuclear type mitochondrial complex III deficiency (#615157)
Tags
Green Green List (high evidence)
TTPA
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Ataxia with Vitamin E Deficiency
  • Ataxia with isolated vitamin E deficiency
Tags
Green Green List (high evidence)
TUBB4A
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review
  • 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.
Tags
Green Green List (high evidence)
VLDLR
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
Tags
Green Green List (high evidence)
VPS13D
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Research
Phenotypes
  • spastic ataxia
Tags
Green Green List (high evidence)
VRK1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert List
  • Expert Review Green
Phenotypes
  • Pontocerebellar hypoplasia 1A (#607596)
Tags
Green Green List (high evidence)
WDR73
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Galloway Mowat syndrome, when patients are ambulant ataxia is a recognisednfeature
Tags
Green Green List (high evidence)
WDR81
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2
Tags
Green Green List (high evidence)
WFS1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
Tags
Green Green List (high evidence)
WWOX
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Autosomal recessive spinocerebellar ataxia 12 (#614322)
Tags
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
Tags
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
Tags
Amber Amber List (moderate evidence)
MVK
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Mevalonic aciduria 610377
Tags
Amber Amber List (moderate evidence)
VAMP1
4 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Radboud University Medical Center, Nijmegen
  • UKGTN
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
  • Expert Review Red
  • UKGTN
Tags
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
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
Tags
Red Red List (low evidence)
ATN1
4 reviews
Other - please specifiy in evaluation comments
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Red
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
Tags
Red Red List (low evidence)
ATP8A2
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • UKGTN
Tags
Red Red List (low evidence)
ATXN1
3 reviews
Not set
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • UKGTN
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
  • currently-ngs-unreportable
  • nucleotide-repeat-expansion
  • watchlist
Red Red List (low evidence)
ATXN10_ATTCT
STR
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
STR
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
3 reviews
Not set
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Spinocerebellarataxia2,183090{Amyotrophiclateralsclerosis,susceptibilityto,13},183090
Tags
  • currently-ngs-unreportable
  • nucleotide-repeat-expansion
Red Red List (low evidence)
ATXN2_CAG
STR
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
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)
ATXN3_CAG
STR
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
4 reviews
Not set
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Spinocerebellarataxia7,164500
Tags
  • currently-ngs-unreportable
  • nucleotide-repeat-expansion
Red Red List (low evidence)
ATXN7_CAG
STR
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)
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
  • currently-ngs-unreportable
  • nucleotide-repeat-expansion
  • structural-variant
Red Red List (low evidence)
CACNB4
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Episodic ataxia, type 5
  • Episodic Ataxia
Tags
Red Red List (low evidence)
CCDC88C
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review
  • Expert Review Red
Phenotypes
  • autosomal dominant spinocerebellar ataxia
Tags
Red Red List (low evidence)
CLP1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Red
Phenotypes
  • Pontocerebellar hypoplasia 10 (#615803)
Tags
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
Tags
Red Red List (low evidence)
DAB1
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
Phenotypes
  • Spinocerebellar ataxia 37 615945
Tags
  • currently-ngs-unreportable
  • founder-effect
  • 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
Tags
Red Red List (low evidence)
ELOVL5
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review
  • Expert Review Red
Phenotypes
  • Spinocerebellar ataxia 36 (#615957)
Tags
Red Red List (low evidence)
FMR1_CGG
STR
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
STR
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Friedreich ataxia 229300
Tags
  • STR
Red Red List (low evidence)
MTPAP
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Ataxia, spastic, 4,
Tags
Red Red List (low evidence)
NAGLU
2 reviews
1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert review
Phenotypes
  • Sensory neuropathy turning into a mild sensory ataxia (AD). Also Sanfilippo syndrome B (AR) (OMIM #252920)
Tags
Red Red List (low evidence)
NOP56
3 reviews
Other - please specifiy in evaluation comments
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Spinocerebellarataxia36,614153
Tags
  • currently-ngs-unreportable
  • nucleotide-repeat-expansion
Red Red List (low evidence)
NOP56_GGCCTG
STR
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)
PAX2
2 reviews
Not set
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Ataxia,spastic2,autosomalrecessive(2)
Tags
Red Red List (low evidence)
PCLO
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Red
Phenotypes
  • Pontocerebellar hypoplasia 3 homozygous non-sense variant identified in the affected individuals of a single pedigree.
Tags
Red Red List (low evidence)
PIK3R5
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Ataxia-oculomotor apraxia 3
Tags
Red Red List (low evidence)
PPP2R2B
3 reviews
Not set
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Spinocerebellarataxia12,604326
Tags
  • currently-ngs-unreportable
  • nucleotide-repeat-expansion
  • watchlist
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
Tags
Red Red List (low evidence)
RELN
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • UKGTN
Tags
Red Red List (low evidence)
RUBCN
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • UKGTN
Tags
Red Red List (low evidence)
SCN8A
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Cognitive impairment with or without cerebellar ataxia, 614306
Tags
Red Red List (low evidence)
SYT14
3 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Spinocerebellarataxia,autosomalrecessive11,614229
Tags
Red Red List (low evidence)
TBP
4 reviews
Not set
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Spinocerebellarataxia17,607136{Parkinsondisease,susceptibilityto},168600
Tags
  • currently-ngs-unreportable
  • nucleotide-repeat-expansion
Red Red List (low evidence)
TBP_CAG
STR
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
Phenotypes
  • Spinocerebellar ataxia 17 607136
Tags
  • STR
Red Red List (low evidence)
TDP1
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive with axonal neuropathy
Tags
Red Red List (low evidence)
TSEN34
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Red
Phenotypes
  • Pontocerebellar hypoplasia 2C (612390)
Tags
Red Red List (low evidence)
UBR4
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review
  • Expert Review Red
Phenotypes
  • Episodic ataxia
Tags
Red Red List (low evidence)
UCHL1
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Red
Phenotypes
  • Early onset ataxia and optic neuropathy
Tags
Red Red List (low evidence)
VPS53
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Red
Phenotypes
  • Pontocerebellar hypoplasia 2E (#615851)
Tags
Red Red List (low evidence)
XRCC1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • ocular motor apraxia, axonal neuropathy, and progressive cerebellar ataxia
Tags
Red Red List (low evidence)
ZFYVE26
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • 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.
Tags
Red Red List (low evidence)
ZNF592
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 5
Tags

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