Hereditary ataxia (Version 1.332)

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.

Panel Activity

23 reviewers

Ellen McDonagh (Genomics England Curator)

Group: Other
Workplace: Other
Evan Reid (University of Cambridge)

Group: GeCIP domain
Workplace: Research lab
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: Other
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
Zornitza Stark (Australian Genomics)

Group: Other
Workplace: Other clinical service
Ivone Leong (Genomics England Curator)

Group: Other
Workplace: Other
Julia Baptista (Royal Devon and Exeter NHS Foundation Trust)

Group: Other NHS organisation
Workplace: NHS diagnostic lab
Dmitrijs Rots (Children's Clinical University Hospital)

Group: Other
Workplace: Research lab
Zerin Hyder (Genomics England)

Group: Other
Workplace: Other
Arina Puzriakova (Genomics England Curator)

Group: Other
Workplace: Other
Edoardo Monfrini (University of Milan)

Group: Other
Workplace: Research lab
Achchuthan Shanmugasundram (Genomics England Curator)

Group: Other
Workplace: Other
Samuel McCall (University College London Hospitals)

Group: Other NHS organisation
Workplace: NHS diagnostic lab
Irina Ziravecka (BKUS)

Group: Other
Workplace: Other

184 Entities

184 reviewed, 138 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 184 Entitiess
Green Green List (high evidence)	AAAS	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Phenotypes Achalasia-addisonianism-alacrimia syndrome, OMIM:231550 Triple-A syndrome, MONDO:0009279 Tags
Green Green List (high evidence)	ABCB7	3 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Anemia, sideroblastic, with ataxia, OMIM:301310 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, OMIM:610246 Spastic ataxia 5, autosomal recessive, OMIM:614487 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 Phenotypes Pettigrew syndrome, OMIM:304340 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	3 reviews 2 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 OMIM:601238 Cayman type cerebellar ataxia MONDO:0011025 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, OMIM:208900 Tags
Green Green List (high evidence)	ATN1_CAG STR	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green NHS GMS Phenotypes Dentatorubral-pallidoluysian atrophy, OMIM: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)	ATXN10_ATTCT STR	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green NHS GMS Phenotypes Spinocerebellar ataxia 10, OMIM:603516 Tags STR
Green Green List (high evidence)	ATXN1_CAG STR	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green NHS GMS Phenotypes Spinocerebellar ataxia 1, OMIM:164400 Tags STR
Green Green List (high evidence)	ATXN2_CAG STR	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green NHS GMS Phenotypes Spinocerebellar ataxia 2, OMIM:183090 Tags STR
Green Green List (high evidence)	ATXN3_CAG STR	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green NHS GMS Phenotypes Machado-Joseph disease, OMIM:109150 Tags STR
Green Green List (high evidence)	ATXN7_CAG STR	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green NHS GMS Phenotypes Spinocerebellar ataxia 7, OMIM:164500 Tags STR
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, OMIM:108500 Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, OMIM:141500 Tags
Green Green List (high evidence)	CACNA1A_CAG STR	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green NHS GMS Phenotypes Spinocerebellar ataxia 6, OMIM: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 Phenotypes Spinocerebellar ataxia 42, 61679 Tags
Green Green List (high evidence)	CACNA2D2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes epilepsy ataxia developmental delay cerebellar atrophy 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, with mental retardation, 614756 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 Phenotypes FG syndrome 4, 300422 Mental retardation and microcephaly with pontine and cerebellar hypoplasia, 300749 Tags
Green Green List (high evidence)	CHMP1A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Pontocerebellar hypoplasia, type 8, 614961 Tags
Green Green List (high evidence)	CLCN2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Leukoencephalopathy with ataxia, OMIM:615651 Tags
Green Green List (high evidence)	CLN6	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Ceroid lipofuscinosis, neuronal, 6, 601780 Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, 204300 Tags
Green Green List (high evidence)	CLP1	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Pontocerebellar hypoplasia 10 OMIM:615803 Pontocerebellar hypoplasia type 10 MONDO:0014349 Tags founder-effect
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, primary 4, 612016 Spinocerebellar Ataxia Type Tags
Green Green List (high evidence)	COX20	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Phenotypes Mitochondrial complex IV deficiency, 220110 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, 604290 Hemosiderosis, systemic, due to aceruloplasminemia, 604290 Tags
Green Green List (high evidence)	CSTB	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), OMIM:254800 Tags nucleotide-repeat-expansion
Green Green List (high evidence)	CSTB_CCCCGCCCCGCG STR	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green NHS GMS Phenotypes Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), OMIM:254800 Tags STR
Green Green List (high evidence)	CWF19L1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Spinocerebellar ataxia, autosomal recessive 17, 616127 Tags
Green Green List (high evidence)	CYP27A1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Phenotypes Cerebrotendinous xanthomatosis, 213700 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)	DAGLA	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Ataxia, HP:0001251 Tags
Green Green List (high evidence)	DARS2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Phenotypes Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105 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	3 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 Leukoencephalopathy with vanishing white matter, 603896 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 Phenotypes Pontocerebellar hypoplasia, type 1B, OMIM:614678 Tags
Green Green List (high evidence)	FGF14	3 reviews 2 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)	FOLR1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Phenotypes Neurodegeneration due to cerebral folate transport deficiency, 613068 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 Friedreich ataxia OMIM:229300 Friedreich ataxia with retained reflexes OMIM:229300 Friedreich ataxia 1 MONDO:0100340 Tags nucleotide-repeat-expansion
Green Green List (high evidence)	FXN_GAA STR	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Phenotypes Friedreich ataxia OMIM:229300 Friedreich ataxia with retained reflexes OMIM:229300 Friedreich ataxia 1 MONDO:0100340 Tags STR
Green Green List (high evidence)	GBA2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Phenotypes Spastic paraplegia 46, autosomal recessive, 614409 Tags
Green Green List (high evidence)	GFAP	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Phenotypes Autosomal Dominant Ataxia Alexander disease Tags
Green Green List (high evidence)	GJC2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green 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 Spinocerebellar ataxia, autosomal recessive 18, 616204 Tags
Green Green List (high evidence)	GRM1	3 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes Spinocerebellar ataxia 44, OMIM:617691 Spinocerebellar ataxia, autosomal recessive 13, OMIM:614831 Tags
Green Green List (high evidence)	HEXA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Phenotypes GM2-gangliosidosis, several forms, 272800 Tay-Sachs disease, 272800 Tags
Green Green List (high evidence)	HEXB	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Phenotypes Sandhoff disease, infantile, juvenile, and adult forms, OMIM:268800 Tags
Green Green List (high evidence)	HTT_CAG STR	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green NHS GMS Phenotypes Huntington disease, OMIM:143100 Tags STR
Green Green List (high evidence)	15q11q13 recurrent (PWS/AS) region (BP1-BP3, Class 1) Loss ISCA-37404-Loss Region	1 review	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	1 review	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	1 review	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)	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, OMIM:611302 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, OMIM:611390 Tags cnv gene-duplication
Green Green List (high evidence)	MMACHC	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert review Expert Review Green Phenotypes Ataxia and hypogonadism Methylmalonic aciduria and homocystinuria, cblC type, 277400 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)	MT-ATP6	2 reviews 1 green	MITOCHONDRIAL	Sources Emory Genetics Laboratory Expert Review Green UKGTN Phenotypes Neuropathy, Ataxia, and Retinitis Pigmentosa Tags gene-checked
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)	NFASC	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with central and peripheral motor dysfunction, OMIM:618356 neurodevelopmental disorder with central and peripheral motor dysfunction, MONDO:0032698 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, OMIM:617560 Tags
Green Green List (high evidence)	NOP56_GGCCTG STR	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green NHS GMS Phenotypes Spinocerebellar ataxia 36, OMIM:614153 Tags STR
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 Phenotypes Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, 300486 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 list Expert Review Green Phenotypes Autosomal Recessive Ataxia Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism Tags
Green Green List (high evidence)	PPP2R2B_CAG STR	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green NHS GMS Phenotypes Spinocerebellar ataxia 12, OMIM:604326 Tags STR
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 list Expert Review Green 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 Phenotypes Convulsions, familial infantile, with paroxysmal choreoathetosis, 602066 Episodic kinesigenic dyskinesia 1, 128200 Seizures, benign familial infantile, 2, 605751 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)	SCN8A	3 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes Cognitive impairment with or without cerebellar ataxia, OMIM:614306 Developmental and epileptic encephalopathy 13, OMIM:614558 Tags
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	3 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 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, OMIM:606002 Tags
Green Green List (high evidence)	SIL1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Phenotypes Marinesco-Sjogren syndrome, 248800 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 Phenotypes Dystonia 9, 601042 GLUT1 deficiency syndrome 1, infantile onset, severe, 606777 GLUT1 deficiency syndrome 2, childhood onset, 612126 Stomatin-deficient cryohydrocytosis with neurologic defects, 608885 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 Phenotypes Mental retardation, X-linked syndromic, Christianson type, 300243 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	3 reviews 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Spastic paraplegia 7, autosomal recessive, OMIM:607259 hereditary spastic paraplegia 7, MONDO:0011803 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, OMIM:600224 Spinocerebellar ataxia, autosomal recessive 14, OMIM:615386 Tags
Green Green List (high evidence)	SRD5A3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Phenotypes Congenital disorder of glycosylation, type Iq, 612379 Kahrizi syndrome, 612713 Tags
Green Green List (high evidence)	STUB1	3 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Autosomal recessive spinocerebellar ataxia type 16, OMIM:615768 autosomal recessive spinocerebellar ataxia 16, MONDO:0014339 Spinocerebellar ataxia 48, OMIM:618093 spinocerebellar ataxia 48, MONDO:0032526 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 Spinocerebellar ataxia, autosomal recessive 8, OMIM:610743 Autosomal recessive ataxia, Beauce type, MONDO:0012549 Tags
Green Green List (high evidence)	TBP_CAG STR	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green NHS GMS Phenotypes Spinocerebellar ataxia 17, OMIM:607136 Tags STR
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, 613908 Tags
Green Green List (high evidence)	TMEM240	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Expert Review Green Phenotypes Spinocerebellar ataxia 21, 607454 Tags
Green Green List (high evidence)	TPP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Ceroid lipofuscinosis, neuronal, 2, 204500 Spinocerebellar ataxia, autosomal recessive 7, 609270 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 type 2A, OMIM:277470 Pontocerebellar hypoplasia type 4, OMIM: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 Mitochondrial complex III deficiency, nuclear type 2, 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	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Expert Review Green Phenotypes Leukodystrophy, hypomyelinating, 6, 612438 Dystonia 4, torsion, autosomal dominant, 128101 Tags
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 Spinocerebellar Ataxia, Recessive Ataxia Neuropathy Spectrum Disorders, Dominant Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, 609286 Perrault syndrome 5, 616138 Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245 Tags
Green Green List (high evidence)	UCHL1	4 reviews 3 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Spastic paraplegia 79B, autosomal recessive, OMIM:615491 early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome, MONDO:0014209 Spastic paraplegia 79A, autosomal dominant, OMIM:620221 Tags
Green Green List (high evidence)	VLDLR	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Phenotypes Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, 224050 Tags
Green Green List (high evidence)	VPS13D	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Research Phenotypes Spinocerebellar ataxia, autosomal recessive 4, 607317 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 recognised feature Galloway-Mowat syndrome 1, 251300 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, 610185 Tags
Green Green List (high evidence)	WFS1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Phenotypes Wolfram syndrome 1, 222300 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
Green Green List (high evidence)	XRCC1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Spinocerebellar ataxia, autosomal recessive 26, OMIM:617633 Tags founder-effect
Amber Amber List (moderate evidence)	CHP1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Spastic ataxia 9, autosomal recessive, OMIM:618438 Tags watchlist
Amber Amber List (moderate evidence)	COG5	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Congenital disorder of glycosylation, type IIi 613612 Tags
Amber Amber List (moderate evidence)	EEF2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Spinocerebellar ataxia 26 OMIM:609306 Tags
Amber Amber List (moderate evidence)	MVK	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Mevalonic aciduria, OMIM:610377 Tags
Amber Amber List (moderate evidence)	POLR3K	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Leukodystrophy, hypomyelinating, 21, OMIM:619310 Tags founder-effect watchlist
Amber Amber List (moderate evidence)	SAR1B	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Amber Phenotypes Chylomicron retention disease 246700 Tags treatable
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	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red UKGTN Phenotypes Charcot-Marie-Tooth disease, axonal, type 2N, OMIM:613287 Charcot-Marie-Tooth disease axonal type 2N, MONDO:0013212 Tags new-gene-name
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	5 reviews	Other	Sources Eligibility statement prior genetic testing Expert Review Red Phenotypes Dentatorubral-pallidoluysian atrophy, OMIM:125370 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	4 reviews	Other	Sources Eligibility statement prior genetic testing Expert Review Red Radboud University Medical Center, Nijmegen UKGTN Phenotypes Spinocerebellar ataxia 1, OMIM:164400 Tags currently-ngs-unreportable nucleotide-repeat-expansion
Red Red List (low evidence)	ATXN10	5 reviews	Other	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Spinocerebellar ataxia 10, OMIM:603516 Tags currently-ngs-unreportable nucleotide-repeat-expansion
Red Red List (low evidence)	ATXN2	4 reviews	Other	Sources Eligibility statement prior genetic testing Expert Review Red Radboud University Medical Center, Nijmegen UKGTN Phenotypes Spinocerebellar ataxia 2, OMIM:183090 Tags currently-ngs-unreportable nucleotide-repeat-expansion
Red Red List (low evidence)	ATXN3	5 reviews	Other	Sources Eligibility statement prior genetic testing Expert Review Red Phenotypes Machado-Joseph disease, OMIM:109150 Tags currently-ngs-unreportable nucleotide-repeat-expansion
Red Red List (low evidence)	ATXN7	5 reviews	Other	Sources Eligibility statement prior genetic testing Expert Review Red Radboud University Medical Center, Nijmegen UKGTN Phenotypes Spinocerebellar ataxia 7, OMIM:164500 Tags currently-ngs-unreportable nucleotide-repeat-expansion
Red Red List (low evidence)	ATXN8	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Phenotypes Spinocerebellar ataxia 8 608768 Tags currently-ngs-unreportable ensembl_ids_known_missing 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)	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)	DMXL2	3 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Other Phenotypes ?Polyendocrine-polyneuropathy syndrome, OMIM:616113 Tags
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	4 reviews 1 red	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 Red Radboud University Medical Center, Nijmegen Phenotypes Fragile X tremor/ataxia syndrome, OMIM:300623 Tags nucleotide-repeat-expansion
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 Expert Review Red 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 Spinocerebellar ataxia 36, OMIM: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) 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	4 reviews	Other	Sources Expert Review Red Radboud University Medical Center, Nijmegen UKGTN Phenotypes Spinocerebellar ataxia 12, OMIM:604326 Tags 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 Epilepsy, progressive myoclonic 1B, OMIM:612437 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	3 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red UKGTN Phenotypes Spinocerebellar ataxia, autosomal recessive 15, OMIM:615705 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	5 reviews	Other	Sources Eligibility statement prior genetic testing Expert Review Red Radboud University Medical Center, Nijmegen UKGTN Phenotypes Spinocerebellar ataxia 17, OMIM:607136 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 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)	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)	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
No list No list	FMR1_CGG STR	3 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert list Expert Review Removed NHS GMS Phenotypes Fragile X tremor/ataxia syndrome, OMIM:300623 Tags curated_removed STR
No list No list	NUS1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Phenotypes intellectual disability seizures ataxia dystonia tremor Tags

Hereditary ataxia (Version 1.332)

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