Hereditary ataxia - adult onset (Version 2.0)

Description

This panel is used as a virtual panel to analyse genome or exome data in the NHS Genomic Medicine Service; the panel will routinely be applied for clinical indication 'R54 Hereditary ataxia with onset in adulthood' but can also be used as part of the analysis for a broader clinical presentation, where relevant.

Further information on the testing criteria and any overlapping clinical indications can be found within (https://www.england.nhs.uk/publication/national-genomic-test-directories/) under 'R54 Hereditary ataxia with onset in adulthood'.

The content of this panel is overseen by the NHS Genomic Medicine Service governance.

Some of the genes in this panel cause conditions that typically present in adulthood. Please consider this when applying the panel.

This panel has been initially created as a merge of genomic entities from the following 
 2 panels: 
- Hereditary ataxia v1.148
- Brain channelopathy v1.46

The content of this panel (version 2.0: https://panelapp.genomicsengland.co.uk/api/v1/panels/466/?version=2.0) was signed off under NHS Genomic Medicine Service governance on (29/11/2019).
This panel will continue to be curated. New changes will be reflected in an increase to the minor version of the panel and details of these can be viewed in the 'Panel Activity' page. Periodically, these changes will be reviewed by a NHS Genomic Medicine Service evaluation process for the GMS panels.

Panel Activity

6 reviewers

Tracy Lester (Genetics laboratory, Oxford UK)

Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab
Sarah Leigh (Genomics England Curator)

Group: Other
Workplace: Other
James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Group: GeCIP domain
Workplace: NHS diagnostic lab
Louise Daugherty (Genomics England Curator)

Group: Other
Workplace: Other
Eleanor Williams (Genomics England Curator)

Group: Other
Workplace: Other
Nick Beauchamp (Sheffield Diagnostic Genetics Service)

Group: GeCIP domain
Workplace: NHS diagnostic lab

253 Entities

252 reviewed, 186 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 253 Entitiess
Green Green List (high evidence)	AAAS	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Hereditary ataxia v1.148 NHS GMS Wessex and West Midlands GLH Phenotypes Achalasia-addisonianism-alacrimia syndrome, 231550 Triple A syndrome, 231550 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 Hereditary ataxia v1.148 NHS GMS Wessex and West Midlands GLH Phenotypes Anemia, sideroblastic, with ataxia Anemia, sideroblast with ataxia, 300135 Sideroblastic Anemia and Ataxia Tags
Green Green List (high evidence)	ABHD12	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Hereditary ataxia v1.148 London North GLH NHS GMS Wessex and West Midlands GLH Phenotypes Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa and Cataract (PHARC) Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa and cataract, 612674 Tags
Green Green List (high evidence)	ADCY5	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Brain channelopathy v1.46 Expert Review Green London North GLH NHS GMS Wessex and West Midlands GLH Phenotypes Familial dyskinesia 606703 Dyskinesia with facial myokymia Tags
Green Green List (high evidence)	ADGRG1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Wessex and West Midlands GLH Phenotypes Polymicrogyria, Frontoparietal, 606854 Polymicrogyria, perisylvian type, 615752 Tags
Green Green List (high evidence)	ADPRHL2	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Wessex and West Midlands GLH Phenotypes Neurodegeneration, childhood-onset, stress-induced with variable ataxia and seizures, 618170 Tags new-gene-name
Green Green List (high evidence)	AFG3L2	3 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Hereditary ataxia v1.148 London North GLH NHS GMS Wessex and West Midlands GLH Phenotypes Spinocerebellar ataxia 28, 610246 Ataxia, spastic, 5, autosomal recessive spastic ataxia 5, 614487 Spinocerebellar ataxia 28 Spinocerebellar Ataxia, Dominant Tags
Green Green List (high evidence)	AMPD2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Hereditary ataxia v1.148 NHS GMS Wessex and West Midlands GLH Phenotypes Pontocerebellar hyoplasia 9, 615809 Pontocerebellar hypoplasia 9 (#615809) Spastic paraplegia homozygous frameshift reported in single family (Novarino et al, 2014). Tags
Green Green List (high evidence)	ANO10	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Hereditary ataxia v1.148 London North GLH NHS GMS Wessex and West Midlands GLH Phenotypes Spinocerebellar ataxia autosomal recessive type 10, 613728 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 Hereditary ataxia v1.148 NHS GMS Wessex and West Midlands GLH Phenotypes Mental retardation, X-linked syndromic 5, 304340 Pettigrew syndrome Tags
Green Green List (high evidence)	APTX	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Hereditary ataxia v1.148 NHS GMS Wessex and West Midlands GLH Phenotypes Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia Ataxia with Oculomotor Apraxia Early onset ataxia with oculomotor apraxia and hypoalbuminemia Tags
Green Green List (high evidence)	ARMC9	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Joubert syndrome 30, 617622 Tags
Green Green List (high evidence)	ARSA	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Hereditary ataxia v1.148 London North GLH NHS GMS Wessex and West Midlands GLH Phenotypes Metachromatic leukodystrophy (#250100) Metachromatic Leukodystrophy, 250100 Tags
Green Green List (high evidence)	ATCAY	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Hereditary ataxia v1.148 London North GLH NHS GMS Wessex and West Midlands GLH Phenotypes Cerebellar Ataxia, Cayman type Cayman Ataxia, 601238 Ataxia, cerebellar, Cayman type Tags
Green Green List (high evidence)	ATM	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Hereditary ataxia v1.148 NHS GMS Wessex and West Midlands GLH Phenotypes Ataxia-telangiectasia, 607585 Ataxia-Telangiectasia Tags
Green Green List (high evidence)	ATN1_CAG STR	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green London North GLH NHS GMS Wessex and West Midlands GLH Phenotypes Dentatorubro-pallidoluysian atrophy 125370 Tags STR
Green Green List (high evidence)	ATP1A2	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Brain channelopathy v1.46 Expert Review Green London North GLH NHS GMS Wessex and West Midlands GLH Phenotypes Alternating hemiplegia of childhood 1, 104290 Familial hemiplegic migraine 2, 602481 Tags treatable
Green Green List (high evidence)	ATP1A3	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Brain channelopathy v1.46 Expert Review Green Hereditary ataxia v1.148 London North GLH NHS GMS Wessex and West Midlands GLH Phenotypes Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorineural hearing loss (CAPOS, #601338) Alternating hemiplegia of childhood 2, 614820 Dystonia-12, 128235 Alternating hemiplegia of childhood 2 (#614820) and Dystonia 12 (#128235) ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, 614820 CAPOS syndrome, 601338 DYSTONIA 12, 128235 Tags treatable
Green Green List (high evidence)	ATP7B	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Brain channelopathy v1.46 Expert Review Green London North GLH NHS GMS Wessex and West Midlands GLH Phenotypes Wilson disease 277900 Wilson disease, 277900 Tags treatable
Green Green List (high evidence)	ATP8A2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Hereditary ataxia v1.148 NHS GMS Wessex and West Midlands GLH Phenotypes Cerebellar ataxia, mental retardation and dysequilibirum syndrome 4 Tags
Green Green List (high evidence)	ATXN10_ATTCT STR	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green London North GLH NHS GMS Wessex and West Midlands GLH Phenotypes Spinocerebellar ataxia 10 603516 Tags STR
Green Green List (high evidence)	ATXN1_CAG STR	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green London North GLH NHS GMS Wessex and West Midlands GLH Phenotypes Spinocerebellar ataxia 1 164400 Tags STR
Green Green List (high evidence)	ATXN2_CAG STR	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green London North GLH NHS GMS Wessex and West Midlands GLH Phenotypes Spinocerebellar ataxia 2 183090 Tags STR
Green Green List (high evidence)	ATXN3_CAG STR	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green London North GLH NHS GMS Wessex and West Midlands GLH Phenotypes Machado-Joseph disease 109150 Tags STR
Green Green List (high evidence)	ATXN7_CAG STR	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green London North GLH NHS GMS Wessex and West Midlands GLH Phenotypes Spinocerebellar ataxia 7 164500 Tags STR
Green Green List (high evidence)	B3GALNT2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Wessex and West Midlands GLH Phenotypes Muscular dystrophy-dystroglycanopathy type A11, 615181 Tags
Green Green List (high evidence)	B4GAT1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Wessex and West Midlands GLH Phenotypes Muscular dystrophy-dystroglycanopathy type A13, 615287 Tags
Green Green List (high evidence)	BRF1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Wessex and West Midlands GLH Phenotypes Cerebrofaciodental syndrome Tags
Green Green List (high evidence)	CA8	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Hereditary ataxia v1.148 NHS GMS Wessex and West Midlands GLH Phenotypes Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3 Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3, 613227 Tags
Green Green List (high evidence)	CACNA1A	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Brain channelopathy v1.46 Expert Review Green Hereditary ataxia v1.148 London North GLH NHS GMS Wessex and West Midlands GLH Phenotypes SCA6, 183086 familial hemiplegic migraine type 1, 141500 Episodic ataxia, type 2 Spinocerebellar ataxia 6 Familial hemiplegic migraine 1, 141500 Episodic ataxia type 2, 108500 Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia episodic ataxia type 2 (EA2),108500 Tags nucleotide-repeat-expansion treatable
Green Green List (high evidence)	CACNA1A_CAG STR	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green London North GLH NHS GMS Wessex and West Midlands GLH Phenotypes Spinocerebellar ataxia 6 183086 Tags STR
Green Green List (high evidence)	CACNA1G	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Hereditary ataxia v1.148 London North GLH NHS GMS Wessex and West Midlands GLH Phenotypes Spinocerebellar ataxia 42, 616795 early-onset SCA42 with neurodevelopmental deficits, 618087 Tags
Green Green List (high evidence)	CAMTA1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Hereditary ataxia v1.148 NHS GMS Wessex and West Midlands GLH Phenotypes Cerebellar ataxia with mental retardation, 614756 Cerebellarataxia, nonprogressive, with mental retardation, 614756 Tags
Green Green List (high evidence)	CAPN1	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Wessex and West Midlands GLH Phenotypes Spastic paraplegia type 76, 616907 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 Hereditary ataxia v1.148 NHS GMS Wessex and West Midlands GLH Phenotypes FG syndrome 4, 300422 Mental retardation and microcephaly with pontine and cerebellar hypoplasia, 300749 Tags
Green Green List (high evidence)	CHMP1A	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Hereditary ataxia v1.148 NHS GMS Wessex and West Midlands GLH Phenotypes Pontocerebellar hypoplasia, type 8, 614961 Pontocerebellar hypoplasia type 8, 614961 Tags
Green Green List (high evidence)	CLCN2	3 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Hereditary ataxia v1.148 London North GLH NHS GMS Wessex and West Midlands GLH Phenotypes {Epilepsy, juvenile myoclonic, susceptibility to, 8}, 607628 {Epilepsy, idiopathic generalized, susceptibility to, 11}, 607628 Leukoencephalopathy with ataxia, 615651 {Epilepsy, juvenile absence, susceptibility to, 2}, 607628 Tags
Green Green List (high evidence)	CLN6	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Hereditary ataxia v1.148 London North GLH NHS GMS Wessex and West Midlands GLH Phenotypes Ceroid neuronal lipofuscinosis kufs type, 204300 Ceroid lipofuscinosis, neuronal, 6, 601780 Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, 204300 Ceroid neuronal lipofuscinosis 6, 601780 Tags
Green Green List (high evidence)	CLP1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Hereditary ataxia v1.148 NHS GMS Wessex and West Midlands GLH Phenotypes Pontocerebellar hypoplasia type 10, 615803 Tags
Green Green List (high evidence)	COA7	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Wessex and West Midlands GLH Phenotypes Spinocerebellar ataxia with axonal neuropathy Tags
Green Green List (high evidence)	COASY	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Wessex and West Midlands GLH Phenotypes Pontocerebellar hypoplasia type 12, 618266 Neurodegeneration with brain iron accumulation 6, 615643 Tags
Green Green List (high evidence)	COG5	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Hereditary ataxia v1.148 NHS GMS Wessex and West Midlands GLH Phenotypes Congenital disorder of glycosylation type 2i, 613612 Congenital disorder of glycosylation, type Iii 613612 Tags
Green Green List (high evidence)	COQ8A	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Hereditary ataxia v1.148 NHS GMS Wessex and West Midlands GLH Phenotypes Spinocerebellar Ataxia Type Primary coenzyme Q10 deficiency 4, 612016 Coenzyme Q10 deficiency, primary 4, 612016 Tags
Green Green List (high evidence)	COX20	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Hereditary ataxia v1.148 NHS GMS Wessex and West Midlands GLH Phenotypes Mitochondrial complex IV deficiency, 220110 Mitochondrial complex IV deficiency Tags
Green Green List (high evidence)	CP	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Hereditary ataxia v1.148 London North GLH NHS GMS Wessex and West Midlands GLH Phenotypes Hemosiderosis, systemic, due to aceruloplasminemia, 604290 Cerebellar ataxia, 604290 Aceruloplasminemia, 604290 Tags
Green Green List (high evidence)	CSTB	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Hereditary ataxia v1.148 London North GLH NHS GMS Wessex and West Midlands GLH Phenotypes Progressive myoclonic epilepsy 1A, 254800 Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), 254800 Tags
Green Green List (high evidence)	CSTB_CCCCGCCCCGCG STR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Phenotypes Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) 254800 Tags STR
Green Green List (high evidence)	CWF19L1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Hereditary ataxia v1.148 NHS GMS Wessex and West Midlands GLH Phenotypes Spinocerebellar ataxia, autosomal recessive 17, 616127 Autosomal recessive spinocerebellar ataxia type 17, 616127 Tags
Green Green List (high evidence)	CYP27A1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Hereditary ataxia v1.148 London North GLH NHS GMS Wessex and West Midlands GLH Phenotypes Cerebrotendinous xanthomatosis, 213700 Tags
Green Green List (high evidence)	CYP2U1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Hereditary ataxia v1.148 NHS GMS Wessex and West Midlands GLH Phenotypes Spastic paraplegia type 56, 615030 Autosomal recessive spastic paraplegia 56 (#615030) complex form of disorder, ataxia not yet identified in affected patients. Tags
Green Green List (high evidence)	DARS2	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Hereditary ataxia v1.148 London North GLH NHS GMS Wessex and West Midlands GLH Phenotypes Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105 Tags
Green Green List (high evidence)	DDHD2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Hereditary ataxia v1.148 NHS GMS Wessex and West Midlands GLH Phenotypes Spastic paraplegia 54 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	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Hereditary ataxia v1.148 NHS GMS Wessex and West Midlands GLH Phenotypes 3-methylglutaconic aciduria, type V 610198 dilated cardiomyopathy with ataxia (DCMA) syndrome 3-methylglutaconic aciduria type V, 610198 Tags
Green Green List (high evidence)	DNAJC5	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Hereditary ataxia v1.148 London North GLH NHS GMS Wessex and West Midlands GLH Phenotypes Ceroid neuronal lipofuscinosis 4, Parry type, 162350 Ceroid lipofuscinosis, neuronal, 4, Parry type 162350 Tags
Green Green List (high evidence)	DNMT1	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Hereditary ataxia v1.148 London North GLH NHS GMS Wessex and West Midlands GLH Phenotypes Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant, Cerebellar ataxia, deafness and narcolepsy, 604121 Hereditary sensory neuropathy type IE, 614116 Tags
Green Green List (high evidence)	EBF3	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Wessex and West Midlands GLH Phenotypes Hypotonia, ataxia and delayed development syndrome, 617330 Tags
Green Green List (high evidence)	EIF2B1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Hereditary ataxia v1.148 London North GLH NHS GMS Wessex and West Midlands GLH Phenotypes Leukoencephalopathy with vanishing white matter, 603896 Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease Tags
Green Green List (high evidence)	EIF2B2	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Hereditary ataxia v1.148 London North GLH NHS GMS Wessex and West Midlands GLH Phenotypes Leukoencephalopathy with vanishing white matter, 603896 Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease Tags
Green Green List (high evidence)	EIF2B3	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Hereditary ataxia v1.148 London North GLH NHS GMS Wessex and West Midlands GLH Phenotypes Leukoencephalopathy with vanishing white matter, 603896 Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease Tags
Green Green List (high evidence)	EIF2B4	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Hereditary ataxia v1.148 London North GLH NHS GMS Wessex and West Midlands GLH Phenotypes Leukoencephalopathy with vanishing white matter, 603896 Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease Tags
Green Green List (high evidence)	EIF2B5	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Hereditary ataxia v1.148 London North GLH NHS GMS Wessex and West Midlands GLH Phenotypes Leukoencephalopathy with vanishing white matter, 603896 Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease Tags
Green Green List (high evidence)	ELOVL4	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Hereditary ataxia v1.148 London North GLH NHS GMS Wessex and West Midlands GLH Phenotypes Spinocerebellar ataxia 34, 133190 Spinocerebellar ataxia 34 133190 Tags
Green Green List (high evidence)	EPM2A	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Hereditary ataxia v1.148 London North GLH NHS GMS Wessex and West Midlands GLH Phenotypes Progressive myoclonic epilepsy 2A, Lafora, 254780 Epilepsy, progressive myoclonic 2A (Lafora) 254780 Tags
Green Green List (high evidence)	EXOSC3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Hereditary ataxia v1.148 NHS GMS Wessex and West Midlands GLH Phenotypes Pontocerebellar hypoplasia type 1B, 614678 Pontocerebellar hypoplasia, type 1B, 614678 Tags
Green Green List (high evidence)	EXOSC8	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Wessex and West Midlands GLH Phenotypes Pontocerebellar hypoplasia type 1C Tags
Green Green List (high evidence)	EXOSC9	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Wessex and West Midlands GLH Phenotypes Pontocerebellar hypoplasia type 1D, 618065 Tags
Green Green List (high evidence)	FGF14	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Hereditary ataxia v1.148 London North GLH NHS GMS Wessex and West Midlands GLH Phenotypes Spinocerebellar ataxia 27 Spinocerebellar ataxia type 27, 609307 Tags
Green Green List (high evidence)	FLVCR1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Hereditary ataxia v1.148 NHS GMS Wessex and West Midlands GLH Phenotypes Posterior Column Ataxia with Retinitis Pigmentosa Posterior column ataxia with retinitis pigmentosa, 609033 Ataxia, posterior column, with retinitis pigmentosa, Tags
Green Green List (high evidence)	FOLR1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Hereditary ataxia v1.148 NHS GMS Wessex and West Midlands GLH Phenotypes Neurodegeneration due to cerebral folate transport deficiency, 613068 Neurodegeneration due to cerebral folate transport deficiency Tags
Green Green List (high evidence)	FXN	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Hereditary ataxia v1.148 London North GLH NHS GMS Wessex and West Midlands GLH Phenotypes Friedreichataxia, 229300 Friedreich ataxia, 229300 Friedreich ataxia with retained reflexes,229300 Tags nucleotide-repeat-expansion
Green Green List (high evidence)	FXN_GAA STR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green London North GLH NHS GMS Wessex and West Midlands GLH Phenotypes Friedreich ataxia 229300 Tags STR
Green Green List (high evidence)	GBA2	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Hereditary ataxia v1.148 London North GLH NHS GMS Wessex and West Midlands GLH Phenotypes Spastic paraplegia 46, 614409 Spastic paraplegia 46, autosomal recessive, 614409 Tags
Green Green List (high evidence)	GFAP	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Hereditary ataxia v1.148 London North GLH NHS GMS Wessex and West Midlands GLH Phenotypes Autosomal Dominant Ataxia Alexander disease Alexander disease, 203450 Tags
Green Green List (high evidence)	GJC2	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Hereditary ataxia v1.148 London North GLH NHS GMS Wessex and West Midlands GLH Phenotypes Leukodystrophy, hypomyelinating, 2 Spastic paraplegia 44, 613206 Hypomyelinating leukodystrophy 2, 608804 Autosomal Recessive Ataxia Tags
Green Green List (high evidence)	GLRA1	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Brain channelopathy v1.46 Expert Review Green NHS GMS Wessex and West Midlands GLH Phenotypes Hyperekplexia 1, 149400 Hyperekplexia, hereditary 1, 149400 Tags
Green Green List (high evidence)	GLRB	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Brain channelopathy v1.46 Expert Review Green NHS GMS Wessex and West Midlands GLH Phenotypes Hyperekplexia 2, 614619 Tags
Green Green List (high evidence)	GOSR2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Hereditary ataxia v1.148 NHS GMS Wessex and West Midlands GLH Phenotypes Epilepsy, progressive myoclonic 6, 614018 Progressive myoclonic epilepsy 6, 614018 Tags
Green Green List (high evidence)	GPAA1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Hereditary ataxia v1.148 NHS GMS Wessex and West Midlands GLH Phenotypes Glycosylphosphatidylinositol biosynthesis defect 15, 617810 Tags
Green Green List (high evidence)	GRID2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Hereditary ataxia v1.148 NHS GMS Wessex and West Midlands GLH Phenotypes Spinocerebellar ataxia, autosomal recessive 18, 616204 Tags
Green Green List (high evidence)	GRM1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Hereditary ataxia v1.148 London North GLH NHS GMS Wessex and West Midlands GLH Phenotypes Spinocerebellar ataxia, autosomal recessive 13 Spinocerebellar ataxia 44, 617691, autosomal recessive spinocerebellar ataxia type 13, 614831 Tags
Green Green List (high evidence)	HEXA	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Hereditary ataxia v1.148 London North GLH NHS GMS Wessex and West Midlands GLH Phenotypes Tay-Sachs disease, 272800 GM2-gangliosidosis, several forms, 272800 Tags
Green Green List (high evidence)	HEXB	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Hereditary ataxia v1.148 London North GLH NHS GMS Wessex and West Midlands GLH Phenotypes Sandhoff disease, infantile, juvenile, and adult forms, 268800 Sandhoff disease, 268800 Tags
Green Green List (high evidence)	HTT_CAG STR	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green London North GLH NHS GMS Wessex and West Midlands GLH Phenotypes Huntington disease 143100 Tags STR
Green Green List (high evidence)	IRF2BPL	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London North GLH NHS GMS Wessex and West Midlands GLH Phenotypes Neurodevelopmental disorder with regression, abnormal movement, loss of speech and seizures, 618088 Tags
Green Green List (high evidence)	15q11q13 recurrent (PWS/AS) region (BP1-BP3, Class 1) Loss ISCA-37404-Loss Region	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Hereditary ataxia v1.148 NHS GMS Wessex and West Midlands GLH Phenotypes 105831 Angelman syndrome Developmental delay, muscle weakness Mental retardation 176270 microcephaly Prader-Willi syndrome Tags
Green Green List (high evidence)	15q11q13 recurrent (PWS/AS) region (BP2-BP3, Class 2) Gain ISCA-37478-Gain Region	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Hereditary ataxia v1.148 NHS GMS Wessex and West Midlands GLH Phenotypes autism, mental retardation, ataxia, seizures, developmental delays, and behavioral problems hypotonia and motor delays, intellectual disability, autism spectrum disorder (ASD), and epilepsy including infantile spasms, 608636 chromosome 15q11-q13 duplication syndrome 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 Expert Review Green NHS GMS Phenotypes microcephaly 176270 Mental retardation Angelman syndrome Prader-Willi syndrome Developmental delay, muscle weakness 105830 Tags
Green Green List (high evidence)	ITPR1	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Hereditary ataxia v1.148 London North GLH NHS GMS Wessex and West Midlands GLH Phenotypes Spinocerebellar ataxia 15, 606658 Gillespie syndrome, 206700 Spinocerebellar ataxia 15 Spinocerebellar ataxia 29 Spinocerebellar ataxia 29, 117360 Tags
Green Green List (high evidence)	KCNA1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Brain channelopathy v1.46 Expert Review Green Hereditary ataxia v1.148 NHS GMS Wessex and West Midlands GLH Phenotypes myokymia with periodic ataxia Episodic ataxia/myokymia syndrome EPISODIC ATAXIA, TYPE 1 Episodic ataxia/myokymia syndrome, 160120 Tags treatable
Green Green List (high evidence)	KCNA2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Wessex and West Midlands GLH Phenotypes Early infantile encephalopathy 32, 616366 Tags
Green Green List (high evidence)	KCNC3	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Hereditary ataxia v1.148 London North GLH NHS GMS Wessex and West Midlands GLH Phenotypes Spinocerebellar ataxia 13, 605259 Spinocerebellar ataxia 13 Tags
Green Green List (high evidence)	KCND3	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Hereditary ataxia v1.148 London North GLH NHS GMS Wessex and West Midlands GLH Phenotypes Spinocerebellar ataxia 19, 607346 Spinocerebellarataxia19, 607346 Tags
Green Green List (high evidence)	KCNJ10	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Hereditary ataxia v1.148 NHS GMS Wessex and West Midlands GLH Phenotypes SESAME syndrome, 612780 Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance Syndrome Tags
Green Green List (high evidence)	KCNQ2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Brain channelopathy v1.46 Expert Review Green NHS GMS Wessex and West Midlands GLH Phenotypes Early infantile encephalopathy 7, 613720 Myokymia, 121200 Tags
Green Green List (high evidence)	KIF1C	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Hereditary ataxia v1.148 NHS GMS Wessex and West Midlands GLH Phenotypes Spastic ataxia 2,autosomal recessive Autosomal recessive spastic ataxia 2, 611302 Tags
Green Green List (high evidence)	MAPK8IP3	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Wessex and West Midlands GLH Phenotypes Intellectual Disability with variable brain anomalies Neurodevelopmental disorder with or without variable brain abnormalities, 618443 Tags
Green Green List (high evidence)	MARS2	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Hereditary ataxia v1.148 London North GLH NHS GMS Wessex and West Midlands GLH Phenotypes Spastic ataxia 3, autosomal recessive Autosomal recessive spastic ataxia 3, 611390 Tags cnv gene-duplication
Green Green List (high evidence)	MFN2	3 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London North GLH NHS GMS Wessex and West Midlands GLH Phenotypes Dominant optic atrophy plus Tags
Green Green List (high evidence)	MMACHC	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Hereditary ataxia v1.148 NHS GMS Wessex and West Midlands GLH Phenotypes Ataxia and hypogonadism Methylmalonic aciduria and homocystinuria cblC type, 277400 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 Hereditary ataxia v1.148 London North GLH NHS GMS Wessex and West Midlands GLH Phenotypes Ataxia-telangiectasia-like disorder 1, 604391 Ataxia-Telangiectasia-Like Disorder Tags
Green Green List (high evidence)	MSTO1	3 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Wessex and West Midlands GLH Phenotypes Mitochondrial myopathy and ataxia, 617675 Tags
Green Green List (high evidence)	MT-ATP6	2 reviews 1 green	MITOCHONDRIAL	Sources Expert Review Green Hereditary ataxia v1.148 NHS GMS Wessex and West Midlands GLH Phenotypes Neuropathy, ataxia and retinitis pigmentosa, NARP, 551500 Neuropathy, Ataxia, and Retinitis Pigmentosa Tags
Green Green List (high evidence)	MTTP	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Hereditary ataxia v1.148 NHS GMS Wessex and West Midlands GLH Phenotypes Abetalipoproteinemia, 200100 Abetalipoproteinemia Tags
Green Green List (high evidence)	NHLRC1	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Hereditary ataxia v1.148 London North GLH NHS GMS Wessex and West Midlands GLH Phenotypes Progressive myoclonic epilepsy 2B, Lafora, 254780 Epilepsy, progressive myoclonic 2B (Lafora) 254780 Tags
Green Green List (high evidence)	NKX2-1	2 reviews 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Brain channelopathy v1.46 Expert Review Green NHS GMS Wessex and West Midlands GLH Phenotypes Choreoathetosis, hypothyroidism, and neonatal respiratory distress 610978 Chorea, hereditary benign 118700 Hereditary bening chorea, 118700 Choreoathetosis, hypothyroidism and neonatal respiratory distress, 610978 Tags
Green Green List (high evidence)	NKX6-2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Hereditary ataxia v1.148 NHS GMS Wessex and West Midlands GLH Phenotypes Autosomal recessive spastic ataxia 8 with hypomyelinating leukodystrophy, 617560 Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy 617560 Tags
Green Green List (high evidence)	NOP56_GGCCTG STR	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green London North GLH NHS GMS Wessex and West Midlands GLH Phenotypes Spinocerebellar ataxia 36 614153 Tags STR
Green Green List (high evidence)	NPC1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Hereditary ataxia v1.148 London North GLH NHS GMS Wessex and West Midlands GLH Phenotypes Niemann-Pick disease type C1, 257220 Niemann-Pick disease types C1 and D (#257220) Tags
Green Green List (high evidence)	NPC2	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Hereditary ataxia v1.148 London North GLH NHS GMS Wessex and West Midlands GLH Phenotypes Niemann-Pick disease type C2 (#607625) Niemann-Pick disease type C2, 607625 Tags
Green Green List (high evidence)	OPA1	2 reviews 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Wessex and West Midlands GLH Phenotypes Optic atrophy 1, 165500 Behr syndrome, 210000 Optic atrophy plus syndrome, 125250 Tags
Green Green List (high evidence)	OPA3	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Hereditary ataxia v1.148 London North GLH NHS GMS Wessex and West Midlands GLH Phenotypes Optic atrophy 3 with cataract, 165300 3-methylglutaconic aciduria, type III, 258501 3-methylglutaconic aciduria type III, 258501 Costeff syndrome Tags
Green Green List (high evidence)	OPHN1	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 Hereditary ataxia v1.148 NHS GMS Wessex and West Midlands GLH Phenotypes Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, 300486 X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance, 300486 Tags
Green Green List (high evidence)	PACS2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Wessex and West Midlands GLH Phenotypes Early infantile epileptic encephalopathy 66, 618067 Tags
Green Green List (high evidence)	PEX16	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Hereditary ataxia v1.148 NHS GMS Wessex and West Midlands GLH Phenotypes Zellweger syndrome (614876) Peroxisome biogenesis disorder 8B (#614877) infantile progressive ataxia and spastic paresis Peroxisome biogenesis disorder 8B, 614877 Peroxisome biogenesis disorder 8A, 614876 Tags
Green Green List (high evidence)	PEX6	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Wessex and West Midlands GLH Phenotypes Peroxisome biogenesis disorder 4A, 614862 Peroxisome biogenesis disorder 4B, 614863 Tags
Green Green List (high evidence)	PLA2G6	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Hereditary ataxia v1.148 London North GLH NHS GMS Wessex and West Midlands GLH Phenotypes Parkinson disease 14 (#612953) Autosomal recessive Parkinson disease 14, 612953 Infantile neuroaxonal dystrophy 1 (#256600) Neurodegeneration with brain iron accumulation 2B, 610217 Neurodegeneration with brain iron accumulation 2B (#610217) Infantile neuroaxonal dystrophy 1, 256600 Tags
Green Green List (high evidence)	PMPCA	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Hereditary ataxia v1.148 NHS GMS Wessex and West Midlands GLH Phenotypes Autosomal recessive spinocerebellar ataxia 2, 213200 Non-progressive cerebellar ataxia recessive variants identified in 17 patients from four different families. Tags
Green Green List (high evidence)	PMPCB	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Wessex and West Midlands GLH Phenotypes Multiple mitochondrial dysfunctions syndrome 6, 617954 Tags
Green Green List (high evidence)	PNKD	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Brain channelopathy v1.46 Expert Review Green NHS GMS Wessex and West Midlands GLH Phenotypes Paroxysmal nonkinesigenic dyskinesia 1, 118800 PAROXYSMAL NONKINESIGENIC DYSKINESIA 1 Tags
Green Green List (high evidence)	PNKP	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Hereditary ataxia v1.148 NHS GMS Wessex and West Midlands GLH Phenotypes Microcephaly, seizures and developmental delay, 613402 Ataxia-oculomotor apraxia 4, 616267 Ataxia with oculomotor apraxia 4 (#616267) Tags
Green Green List (high evidence)	PNPLA6	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Hereditary ataxia v1.148 London North GLH NHS GMS Wessex and West Midlands GLH Phenotypes Sapstic paraplegia 39, 612020 Oliver-McFarlane syndrome, 275400 Boucher-Neuhauser syndrome, 215470 Oliver-McFarlane syndrome (#603197) Spinocerebellar ataxia, hypogonadotropic hypogonadism and chorioretinal dystrophy (Boucher-Neuhauser syndrome, #215470) Autosomal recessive spastic paraplegia 39 (#612020), ataxia seen in some patients Tags
Green Green List (high evidence)	POLG	3 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Hereditary ataxia v1.148 London North GLH NHS GMS Wessex and West Midlands GLH Phenotypes Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) Mitochondrial recessive ataxia syndrome, 607459 autosomal recessive progressive external opthalmoplegia, 258450 autosomal dominant progressive external ophthalmoplegia, 157640 Mitochondrial DNA depletion types 4A, 203700 and 4B, 613662 Tags
Green Green List (high evidence)	POLR3A	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Hereditary ataxia v1.148 NHS GMS Wessex and West Midlands GLH Phenotypes Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism Hypomyelinating leukodystrophy 7 with or without oligodontia and/or hypogonadotrophic hypogonadism, 607694 Autosomal Recessive Ataxia Tags
Green Green List (high evidence)	PPP2R2B_CAG STR	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green London North GLH NHS GMS Wessex and West Midlands GLH Phenotypes Spinocerebellar ataxia 12 604326 Tags STR
Green Green List (high evidence)	PRICKLE1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Hereditary ataxia v1.148 NHS GMS Wessex and West Midlands GLH Phenotypes Progressive myoclonic epilepsy 1B, 612437 Progressive Myoclonus Epilepsy with Ataxia Tags
Green Green List (high evidence)	PRKCG	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Hereditary ataxia v1.148 London North GLH NHS GMS Wessex and West Midlands GLH Phenotypes Spinocerebellar ataxia 14 Spincocerebellar ataxia 14, 605361 Tags
Green Green List (high evidence)	PRNP	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Hereditary ataxia v1.148 London North GLH NHS GMS Wessex and West Midlands GLH Phenotypes Autosomal Dominant Ataxia Multiple allelic disorders reported Huntington disease-like 1 Gerstmann-Straussler disease Creutzfeldt-Jakob disease Insomnia, fatal familial Tags
Green Green List (high evidence)	PRRT2	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Brain channelopathy v1.46 Expert Review Green Hereditary ataxia v1.148 London North GLH NHS GMS Wessex and West Midlands GLH Phenotypes CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS SEIZURES, BENIGN FAMILIAL INFANTILE, 2 EPISODIC KINESIGENIC DYSKINESIA 1 Familial infantile convulsions with paroxysmal dyskinesia 1, 602066 dystonia and occasionally hemiplegic migraine and epilepsy episodic kinesigenic dyskinesia episodic kinesigenic dyskinesia, 128200 Tags treatable
Green Green List (high evidence)	PTRH2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Wessex and West Midlands GLH Phenotypes Infantile multi-system neurologic, endocrine, and pancreatic disease, 616263 Tags
Green Green List (high evidence)	PUM1	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London North GLH NHS GMS Wessex and West Midlands GLH Phenotypes Spinocerebellar ataxia 47, 617931 Tags
Green Green List (high evidence)	RARS2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Hereditary ataxia v1.148 NHS GMS Wessex and West Midlands GLH Phenotypes epilepsy Pontocerebellar hypoplasia Pontocerebellar hypoplasia 6, 611523 Tags
Green Green List (high evidence)	RNF170	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Hereditary ataxia v1.148 London North GLH NHS GMS Wessex and West Midlands GLH Phenotypes Autosomal dominant sensory ataxia 1, 608984 Ataxia, sensory, 1, autosomal dominant Tags
Green Green List (high evidence)	RNF216	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Hereditary ataxia v1.148 London North GLH NHS GMS Wessex and West Midlands GLH Phenotypes Cerebellar ataxia and hypogonadotropic hypogonadism, 212840 Cerebellar ataxia and hypogonadotrophic hypogonadism Tags
Green Green List (high evidence)	ROBO3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Wessex and West Midlands GLH Phenotypes Familial horizontal gaze palsy with progressive scoliosis, 607313 Tags
Green Green List (high evidence)	RORA	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London North GLH NHS GMS Wessex and West Midlands GLH Phenotypes Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, 618060 Tags
Green Green List (high evidence)	SACS	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Hereditary ataxia v1.148 London North GLH NHS GMS Wessex and West Midlands GLH Phenotypes Charlevoix-Saguenay spastic ataxia, 270550 Spastic ataxia, Charlevoix-Saguenay type Tags
Green Green List (high evidence)	SAMD9L	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London North GLH NHS GMS Wessex and West Midlands GLH Phenotypes Ataxia-pancytopenia syndrome, 159550 Tags
Green Green List (high evidence)	SCN1A	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Brain channelopathy v1.46 Expert Review Green NHS GMS Wessex and West Midlands GLH Phenotypes familial hemiplegic migraine 3 Familial febrile seziures 3A, 604403 Dravet syndrome several epilepsy, convulsion and migraine disorders. Generalised epilepsy with febrile seizures type 2, 604403 Familial hemiplegic migraine 3, 609634 Epileptic encephalopathy 6, 607208 Tags
Green Green List (high evidence)	SCN8A	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Brain channelopathy v1.46 Expert Review Green Hereditary ataxia v1.148 NHS GMS Wessex and West Midlands GLH Phenotypes epilepsy paroxysmal kinesigenic dyskinesias Epileptic encephalopathy 13, 614558 Benign familial infantile seizures 5, 617080 Cognitive impairment with or without cerebellar ataxia, 614306 Tags
Green Green List (high evidence)	SCYL1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Wessex and West Midlands GLH Phenotypes Spinocerebellar ataxia, autosomal recessive 21, 616719 Tags
Green Green List (high evidence)	SEPSECS	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Hereditary ataxia v1.148 NHS GMS Wessex and West Midlands GLH Phenotypes Pontocerebellar hypoplasia type 2D, 613811 Pontocerebellar hypoplasia type 2D (613811) Tags
Green Green List (high evidence)	SETX	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Hereditary ataxia v1.148 London North GLH NHS GMS Wessex and West Midlands GLH Phenotypes ataxia with oculomotor apraxia type 2 (AOA2), juvenile amyotrophic lateral sclerosis (ALS4) and autosomal dominant ataxia Autosomal recessive spinocerebellar ataxia type 1, 606002 Ataxia-ocular apraxia-2 Tags
Green Green List (high evidence)	SIL1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Hereditary ataxia v1.148 NHS GMS Wessex and West Midlands GLH Phenotypes Marinesco-Sjogren syndrome, 248800 Tags
Green Green List (high evidence)	SLC1A3	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Brain channelopathy v1.46 Expert Review Green Hereditary ataxia v1.148 NHS GMS Wessex and West Midlands GLH Phenotypes Episodic ataxia, type 6 Episodic ataxia type 6, 612656 Tags
Green Green List (high evidence)	SLC25A46	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Wessex and West Midlands GLH Phenotypes Hereditary motor and sensory neuropathy type VIB, 616505 Tags
Green Green List (high evidence)	SLC2A1	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Brain channelopathy v1.46 Expert Review Green Hereditary ataxia v1.148 NHS GMS Wessex and West Midlands GLH Phenotypes paroxysmal exertion-induced dyskinesia with or without epilepsy and/or hemolytic anemia GLUT1 DEFICIENCY SYNDROME 1 dystonia 9 GLUT1 deficiency syndrome 2, 612126 GLUT1 deficiency syndrome 1, 606777 Dystonia 9, 601042 EPILEPSY, IDIOPATHIC GENERALIZED Tags treatable
Green Green List (high evidence)	SLC39A8	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Wessex and West Midlands GLH Phenotypes Congenital disorder of glycosylation type IIN, 616721 Tags
Green Green List (high evidence)	SLC52A2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Wessex and West Midlands GLH Phenotypes Bwon-Vialetto-Van Laere syndrome 2, 614707 Tags
Green Green List (high evidence)	SLC9A1	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Wessex and West Midlands GLH Phenotypes Lichtenstein-Knorr Syndrome Tags
Green Green List (high evidence)	SLC9A6	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 Green Hereditary ataxia v1.148 Phenotypes Mental retardation, X-linked syndromic, Christianson type, 300243 Tags
Green Green List (high evidence)	SNX14	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Hereditary ataxia v1.148 London North GLH NHS GMS Wessex and West Midlands GLH Phenotypes Autosomal recessive spinocerebellar ataxia (#616354) Autosomal recessive spinocerebellar ataxia 20, 616354 Tags
Green Green List (high evidence)	SPG7	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Hereditary ataxia v1.148 London North GLH NHS GMS Wessex and West Midlands GLH Phenotypes Spastic paraplegia 7 (#607259) complex forms of the disease. Actually associated with a range of phenotypes including adult-onset ataxia Autosomal recessive spastic paraplegia 7, 607259 Tags
Green Green List (high evidence)	SPR	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Brain channelopathy v1.46 Expert Review Green NHS GMS Wessex and West Midlands GLH Phenotypes Dystonia, dopa-responsive, due to sepiapterin reductase deficiency 612716 Dopa-responsive dystonia due to sepiaterin reductase deficiency, 612716 Tags
Green Green List (high evidence)	SPTBN2	3 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Hereditary ataxia v1.148 London North GLH NHS GMS Wessex and West Midlands GLH Phenotypes Spinocerebellar Ataxia, Dominant Autosomal recessive spinocerebellar ataxia 14, 615386 Spinocerebellar ataxia, autosomal recessive 14 Spinocerebellar ataxia 5 Spinocerebellar ataxia 5, 600224 SPINOCEREBELLAR ATAXIA 5 (autosomal dominant) SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14 Tags
Green Green List (high evidence)	SQSTM1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Wessex and West Midlands GLH Phenotypes Neurodegeneration with ataxia, dystonia, and gaze palsy, 617145 Tags
Green Green List (high evidence)	SRD5A3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Hereditary ataxia v1.148 NHS GMS Wessex and West Midlands GLH Phenotypes Congenital disorder of glycosylation type Iq, 612379 Congenital disorder of glycosylation, type Iq, 612379 Kahrizi syndrome, 612713 Tags
Green Green List (high evidence)	STUB1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Hereditary ataxia v1.148 London North GLH NHS GMS Wessex and West Midlands GLH Phenotypes Autosomal recessive spinocerebellar ataxia type 16, 615768 Spinocerebellar ataxia, autosomal recessive 16 Tags
Green Green List (high evidence)	SYNE1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Hereditary ataxia v1.148 London North GLH NHS GMS Wessex and West Midlands GLH Phenotypes Cerebellar Ataxia Spinocerebellar ataxia, autosomal recessive 8 Autosomal recessive spinocerebellar ataxia type 8 Tags
Green Green List (high evidence)	SYNGAP1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Wessex and West Midlands GLH Phenotypes Autosomal dominant mental retardation 5, 612621 Tags
Green Green List (high evidence)	TBC1D23	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Wessex and West Midlands GLH Phenotypes Pontocerebellar hypoplasia type 11, 617695 Tags
Green Green List (high evidence)	TBP_CAG STR	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green London North GLH NHS GMS Wessex and West Midlands GLH Phenotypes Spinocerebellar ataxia 17 607136 Tags STR
Green Green List (high evidence)	TERT	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Wessex and West Midlands GLH Phenotypes Dyskeratosis congenita, 613989 Tags
Green Green List (high evidence)	TMEM106B	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Wessex and West Midlands GLH Phenotypes Hypomyelinating leukodystrophy 16, 617964 Tags
Green Green List (high evidence)	TMEM240	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Hereditary ataxia v1.148 London North GLH NHS GMS Wessex and West Midlands GLH Phenotypes Spinocerebellar ataxia 21, 607454 Tags
Green Green List (high evidence)	TOE1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Wessex and West Midlands GLH Phenotypes Pontocerebellar hypoplasia 7, 614969 Tags
Green Green List (high evidence)	TPP1	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Hereditary ataxia v1.148 London North GLH NHS GMS Wessex and West Midlands GLH Phenotypes Autosomal recessive spinocerebellar ataxia 7, 609270 Ceroid lipofuscinosis, neuronal, 2, 204500 Spinocerebellar ataxia, autosomal recessive 7, 609270 Neuronal ceroid lipofuscinosis, 204500 Tags
Green Green List (high evidence)	TSEN15	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Wessex and West Midlands GLH Phenotypes Pontocerebellar hypoplasia 2F, 617026 Tags
Green Green List (high evidence)	TSEN2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Hereditary ataxia v1.148 NHS GMS Wessex and West Midlands GLH Phenotypes Pontocerebellar hypoplasia 2B, 612389 Tags
Green Green List (high evidence)	TSEN54	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Hereditary ataxia v1.148 NHS GMS Wessex and West Midlands GLH Phenotypes Pontocerebellar hypoplasia 5, 610204 Pontocerebellar hypoplasia 4, 225753 Pontocerebellar hypoplasia 2A, 277470 Pontocerebellar hypoplasia type 4, 225753 Pontocerebellar hypoplasia type 2A, 277470 Tags
Green Green List (high evidence)	TTBK2	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Hereditary ataxia v1.148 London North GLH NHS GMS Wessex and West Midlands GLH Phenotypes Spinocerebellar ataxia 11, 604432 Spinocerebellar ataxia 11 Tags
Green Green List (high evidence)	TTPA	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Hereditary ataxia v1.148 London North GLH NHS GMS Wessex and West Midlands GLH Phenotypes Ataxia with isolated vitamin E deficiency Ataxia with Vitamin E Deficiency Ataxia with isolated vitamin E deficiency, 277460 Tags
Green Green List (high evidence)	TUBA1A	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Wessex and West Midlands GLH Phenotypes Lissencephaly 3, 611603 Tags
Green Green List (high evidence)	TUBB2B	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Wessex and West Midlands GLH Phenotypes Complex cortical dysplasia with other brain abnormalities 7, 610031 Tags
Green Green List (high evidence)	TUBB3	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Wessex and West Midlands GLH Phenotypes Complex cortical dysplasia with other brain abnormalities 1, 614039 Tags
Green Green List (high evidence)	TUBB4A	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Hereditary ataxia v1.148 London North GLH NHS GMS Wessex and West Midlands GLH Phenotypes Dystonia 4, torsion, autosomal dominant, 128101 Dystonia 4, 128101, Hypomyelinating leukodystrophy 6, 612438 Leukodystrophy, hypomyelinating, 6, 612438 Tags
Green Green List (high evidence)	TWNK	3 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Hereditary ataxia v1.148 London North GLH NHS GMS Wessex and West Midlands GLH Phenotypes Mitochondrial DNA depletion syndrome 7, 271245 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, 609286 Ataxia Neuropathy Spectrum Disorders, Dominant Spinocerebellar Ataxia, Recessive Progressive external ophthalmoplegia with mitochondrial DNA deletions, 609286 Perrault syndrome 5, 616138 Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245 Tags
Green Green List (high evidence)	UBA5	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Wessex and West Midlands GLH Phenotypes Early infantile epileptic encephalopathy 44, 617132 Autosomal recessive spinocerebellar ataxia 24, 617133 Tags
Green Green List (high evidence)	UCHL1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Hereditary ataxia v1.148 NHS GMS Wessex and West Midlands GLH Phenotypes Early onset ataxia and optic neuropathy Autosomal recessive spastic paraplegia 79, 615491 Tags
Green Green List (high evidence)	VLDLR	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Hereditary ataxia v1.148 NHS GMS Wessex and West Midlands GLH Phenotypes Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, 224050 Cerebellar ataxia, mental retardation and dysequilibirum syndrome 1, 224050 Tags
Green Green List (high evidence)	VPS13D	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Hereditary ataxia v1.148 London North GLH NHS GMS Wessex and West Midlands GLH Phenotypes Autosomal recessive spinocerebellar ataxia 4, 608877 Spinocerebellar ataxia, autosomal recessive 4, 607317 Tags
Green Green List (high evidence)	VPS53	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Hereditary ataxia v1.148 NHS GMS Wessex and West Midlands GLH Phenotypes Pontocerebellar hypoplasia 2E, 615851 Tags
Green Green List (high evidence)	WDR73	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Hereditary ataxia v1.148 NHS GMS Wessex and West Midlands GLH Phenotypes Galloway-Mowat Syndrome 1, 251300 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 Hereditary ataxia v1.148 NHS GMS Wessex and West Midlands GLH Phenotypes Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185 Cerebellar ataxia, mental retardation and dysequilibrium syndrome 2, 610185 Congenital hydrocephalus 3 with brain anomalies, 617967 Tags
Green Green List (high evidence)	WFS1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Hereditary ataxia v1.148 NHS GMS Wessex and West Midlands GLH Phenotypes Wolfram syndrome 1, 222300 Tags
Green Green List (high evidence)	WWOX	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Hereditary ataxia v1.148 NHS GMS Wessex and West Midlands GLH Phenotypes Autosomal recessive spinocerebellar ataxia 12, 6143232 Autosomal recessive spinocerebellar ataxia 12, 614322 Early infantile epileptic encephalopathy 28, 616211 Tags
Green Green List (high evidence)	ZFYVE26	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Hereditary ataxia v1.148 London North GLH NHS GMS Wessex and West Midlands GLH Phenotypes Autosomal recessive spastic paraplegia 15, 270700 Autosomal recessive spastic paraplegia 15, 270700 Tags
Amber Amber List (moderate evidence)	AARS	3 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Hereditary ataxia v1.148 London North GLH NHS GMS Wessex and West Midlands GLH Phenotypes CMT 2N 613287 EIEE29, 616339 Tags new-gene-name
Amber Amber List (moderate evidence)	ATP2B3	3 reviews	Unknown	Sources Expert Review Amber Hereditary ataxia v1.148 London North GLH NHS GMS Wessex and West Midlands GLH Phenotypes Spinocerebellar ataxia, X-linked 1 X-linked spinocerebellar ataxia, 302500 Tags
Amber Amber List (moderate evidence)	DYNC1H1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Hereditary ataxia v1.148 NHS GMS Wessex and West Midlands GLH Phenotypes Autosomal dominant MR 13, 614563 Charcot Marie Tooth, SMA, Intellectual disability Tags
Amber Amber List (moderate evidence)	ELOVL5	3 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Hereditary ataxia v1.148 London North GLH NHS GMS Wessex and West Midlands GLH Phenotypes Spinocerebellar ataxia 38, 615957 Spinocerebellar ataxia 36 615957 Tags
Amber Amber List (moderate evidence)	GALC	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Amber Phenotypes Krabbe disease, 245200 Tags
Amber Amber List (moderate evidence)	GDAP2	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber London North GLH NHS GMS Wessex and West Midlands GLH Phenotypes Autosomal recessive spinocerebellar ataxia Tags
Amber Amber List (moderate evidence)	KCNQ3	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Brain channelopathy v1.46 Expert Review Amber NHS GMS Wessex and West Midlands GLH Phenotypes Seizures, benign neonatal, type 2, 121201 Benign neonatal seizures 2, 121201 Tags
Amber Amber List (moderate evidence)	LNPK	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Wessex and West Midlands GLH Phenotypes Neurodevelopmental disorder with epilepsy and hypoplasia or the corpus callosum Tags
Amber Amber List (moderate evidence)	MORC2	3 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber London North GLH NHS GMS Wessex and West Midlands GLH Phenotypes Axonal type CMT disease type 2Z, 616688 Tags
Amber Amber List (moderate evidence)	MTPAP	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Hereditary ataxia v1.148 NHS GMS Wessex and West Midlands GLH Phenotypes Ataxia, spastic, 4, Autosomal recessive spastic ataxia 4, 613672 Tags
Amber Amber List (moderate evidence)	PEX2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Amber Phenotypes Peroxisome biogenesis disorder 5B, 614867 Tags
Amber Amber List (moderate evidence)	SAR1B	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Hereditary ataxia v1.148 London North GLH NHS GMS Wessex and West Midlands GLH Phenotypes Chylomicron retention disease, 246700 Chylomicron retention disease 246700 Tags treatable
Amber Amber List (moderate evidence)	VAMP1	3 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Hereditary ataxia v1.148 London North GLH NHS GMS Wessex and West Midlands GLH Phenotypes Autosomal dominant spastic ataxia 1, 108600 Spastic ataxia 1, autosomal dominant, 108600 Tags watchlist
Amber Amber List (moderate evidence)	VRK1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Hereditary ataxia v1.148 NHS GMS Wessex and West Midlands GLH Phenotypes Pontocerebellar hypoplasia 1A, 607596 Tags
Amber Amber List (moderate evidence)	XRCC1	3 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Hereditary ataxia v1.148 London North GLH NHS GMS Wessex and West Midlands GLH Phenotypes ocular motor apraxia, axonal neuropathy, and progressive cerebellar ataxia Autosomal recessive spinocerebellar ataxia 26, 617633 Tags watchlist
Red Red List (low evidence)	ALAS2	0 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Red Hereditary ataxia v1.148 Tags
Red Red List (low evidence)	ATN1	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Brain channelopathy v1.46 Expert Review Red Hereditary ataxia v1.148 NHS GMS Wessex and West Midlands GLH Phenotypes Dentato-pallidoluysian atrophy Dentatorubro-pallidoluysian atrophy 125370 Tags currently-ngs-unreportable nucleotide-repeat-expansion
Red Red List (low evidence)	ATXN1	2 reviews 1 green 1 red	Unknown	Sources Expert Review Red Hereditary ataxia v1.148 NHS GMS Wessex and West Midlands GLH Phenotypes Spinocerebellar ataxia 1, 164400 Spinocerebellarataxia1,164400 Tags currently-ngs-unreportable nucleotide-repeat-expansion
Red Red List (low evidence)	ATXN10	2 reviews 1 green 1 red	Unknown	Sources Expert Review Red Hereditary ataxia v1.148 NHS GMS Wessex and West Midlands GLH Phenotypes Spinocerebellar ataxia 10, 603516 Spinocerebellarataxia10, 603516 Tags currently-ngs-unreportable nucleotide-repeat-expansion
Red Red List (low evidence)	ATXN2	2 reviews 1 green 1 red	Unknown	Sources Expert Review Red Hereditary ataxia v1.148 NHS GMS Wessex and West Midlands GLH Phenotypes Spinocerebellarataxia2, 183090 Spinocerebellar ataxia 2, 183090 {Amyotrophiclateralsclerosis,susceptibilityto,13},183090 Tags currently-ngs-unreportable nucleotide-repeat-expansion
Red Red List (low evidence)	ATXN3	2 reviews 1 green 1 red	Unknown	Sources Expert Review Red Hereditary ataxia v1.148 NHS GMS Wessex and West Midlands GLH Phenotypes Machado-Joseph disease, 109150 Tags currently-ngs-unreportable nucleotide-repeat-expansion
Red Red List (low evidence)	ATXN7	2 reviews 1 green 1 red	Unknown	Sources Expert Review Red Hereditary ataxia v1.148 NHS GMS Wessex and West Midlands GLH Phenotypes Spinocerebellarataxia 7,164500 Spinocerebellar ataxia 7, 164500 Tags currently-ngs-unreportable nucleotide-repeat-expansion
Red Red List (low evidence)	ATXN8	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Hereditary ataxia v1.148 London North GLH NHS GMS Phenotypes Spinocerebellar ataxia 8 608768 Tags currently-ngs-unreportable nucleotide-repeat-expansion
Red Red List (low evidence)	BEAN1	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Hereditary ataxia v1.148 London North GLH NHS GMS Wessex and West Midlands GLH Phenotypes Spinocerebellar ataxia 31, 117210 Spinocerebellar ataxia 31 117210 Tags currently-ngs-unreportable nucleotide-repeat-expansion structural-variant
Red Red List (low evidence)	CACNB4	3 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Brain channelopathy v1.46 Expert Review Red Hereditary ataxia v1.148 London North GLH NHS GMS Wessex and West Midlands GLH Phenotypes Episodic ataxia type 5, 613855 Episodic ataxia, type 5 EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9 Episodic Ataxia Tags treatable
Red Red List (low evidence)	CCDC88C	3 reviews 3 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Hereditary ataxia v1.148 London North GLH NHS GMS Wessex and West Midlands GLH Phenotypes Spinocerebellar ataxia 40, 616053 autosomal dominant spinocerebellar ataxia Tags
Red Red List (low evidence)	CDK5	2 reviews 2 red	Not set	Sources NHS GMS Wessex and West Midlands GLH Phenotypes Lissencephaly 7 with cerebellar hypoplasia, 616342 Tags
Red Red List (low evidence)	DAB1	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Hereditary ataxia v1.148 London North GLH NHS GMS Wessex and West Midlands GLH Phenotypes Spinocerebellar ataxia 37, 615945 Spinocerebellar ataxia 37 615945 Tags currently-ngs-unreportable founder-effect nucleotide-repeat-expansion
Red Red List (low evidence)	DCC	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Wessex and West Midlands GLH Phenotypes Mirror movements 1 and/or agenesis of the corpus callosum Tags
Red Red List (low evidence)	DMXL2	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Hereditary ataxia v1.148 NHS GMS Wessex and West Midlands GLH Phenotypes Sensorineural Hearing Loss OMIM:612186 Polyendocrine-polyneuropathy syndrome, 616113 ORPHA90636 Tags
Red Red List (low evidence)	FMR1	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 Red Hereditary ataxia v1.148 London North GLH NHS GMS Wessex and West Midlands GLH Phenotypes FragileXtremor/ataxiasyndrome,300623 Fragile X tremor/ataxia syndrome FMR1-related disorders include fragile X syndrome, fragile X-associated tremor/ataxia syndrome (FXTAS), and FMR1-related premature ovarian insufficiency (POI) males with a tremor phenotype Tags nucleotide-repeat-expansion
Red Red List (low evidence)	FRMD4A	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Phenotypes Agenesis of corpus callosum with facial anomalies and cerebellar ataxia Tags
Red Red List (low evidence)	GLI3	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Wessex and West Midlands GLH Phenotypes Greig syndrome, 175700 Pallister-Hall syndrome, 146510 Polydactyly type IV, 174700 Polydactyly types A1/B, 174200 Tags
Red Red List (low evidence)	HTT	3 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Brain channelopathy v1.46 Expert Review Red London North GLH NHS GMS Wessex and West Midlands GLH Phenotypes Huntington disease 143100 Lopes-Maciel-Rodan syndrome, 617432 Tags currently-ngs-unreportable nucleotide-repeat-expansion
Red Red List (low evidence)	Xp11.23 region (includes MAOA and MAOB) Loss ISCA-37468-Loss Region	1 review 1 red	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 NHS GMS Phenotypes hypotonia episodes of sudden loss of muscle tone short stature severe intellectual disability autistic features eleveated serotonin levels exiting behavior lip-smacking stereotypical hand movements Tags
Red Red List (low evidence)	KCNK18	3 reviews 3 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Brain channelopathy v1.46 Expert Review Red London North GLH NHS GMS Wessex and West Midlands GLH Phenotypes Susceptibility to migraine with/without arua 13, 613656 MIGRAINE, WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 13 Tags
Red Red List (low evidence)	MME	3 reviews 3 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources London North GLH NHS GMS Wessex and West Midlands GLH Phenotypes Spinocerebellar ataxia type 43, 617018 Tags
Red Red List (low evidence)	MVK	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Hereditary ataxia v1.148 Phenotypes Mevalonic aciduria 610377 Tags
Red Red List (low evidence)	NAGLU	3 reviews 2 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Hereditary ataxia v1.148 London North GLH NHS GMS Wessex and West Midlands GLH Phenotypes CMT axon type 2V, 616491 Sanfilippo syndrome B (AR) (OMIM #252920) Sensory neuropathy turning into a mild sensory ataxia (AD) Tags
Red Red List (low evidence)	NOP56	2 reviews 1 green 1 red	Other - please specifiy in evaluation comments	Sources Expert Review Red Hereditary ataxia v1.148 London North GLH NHS GMS Phenotypes Spinocerebellarataxia36,614153 Tags currently-ngs-unreportable nucleotide-repeat-expansion
Red Red List (low evidence)	PAX2	3 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Hereditary ataxia v1.148 London North GLH NHS GMS Wessex and West Midlands GLH Phenotypes Ataxia,spastic2,autosomal recessive Papillorenal syndrome, AR Tags
Red Red List (low evidence)	PAX6	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Hereditary ataxia v1.148 NHS GMS Wessex and West Midlands GLH Phenotypes Aniridia, 106210 Aniridia, Cerebellar Ataxia, And Mental Retardation Tags
Red Red List (low evidence)	PCLO	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Hereditary ataxia v1.148 NHS GMS Wessex and West Midlands GLH Phenotypes Pontocerebellar hypoplasia 3 homozygous non-sense variant identified in the affected individuals of a single pedigree. Pontocerebellar hypoplasia type 3, 608027 Tags
Red Red List (low evidence)	PDYN	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Hereditary ataxia v1.148 London North GLH NHS GMS Wessex and West Midlands GLH Phenotypes Spinocerebellar ataxia 23 Spinocerebellar ataxia 23, 610245 Tags
Red Red List (low evidence)	PI4KA	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Phenotypes Polymicrogyria, perisylvian with cerebellar hypoplasia and arthrogryposis, 616531 Tags
Red Red List (low evidence)	PIK3R5	3 reviews 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Hereditary ataxia v1.148 London North GLH NHS GMS Wessex and West Midlands GLH Phenotypes Ataxia-oculomotor apraxia 3, 615217 Ataxia-oculomotor apraxia 3 Tags
Red Red List (low evidence)	POLG2	4 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Wessex and West Midlands GLH Phenotypes Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 610131 Tags
Red Red List (low evidence)	PPP2R2B	1 review 1 red	Unknown	Sources Expert Review Red Hereditary ataxia v1.148 Phenotypes Spinocerebellarataxia12,604326 Tags currently-ngs-unreportable nucleotide-repeat-expansion watchlist
Red Red List (low evidence)	RELN	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Hereditary ataxia v1.148 NHS GMS Wessex and West Midlands GLH Phenotypes Lissencephaly 2, 257320 Tags
Red Red List (low evidence)	RUBCN	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Hereditary ataxia v1.148 NHS GMS Wessex and West Midlands GLH Phenotypes Autosomal recessive spinocerebellar ataxia 15, 615705 Tags
Red Red List (low evidence)	SCN9A	2 reviews 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Brain channelopathy v1.46 Expert Review Red NHS GMS Wessex and West Midlands GLH Phenotypes Paroxysmal extreme pain disorder, 167400 Congenital Indifference to Pain Paroxysmal Extreme Pain Disorder Hereditary Sensory Neuropathy Febrile seizures, familial, 3B, 613863 Dysosteosclerosis Epilepsy, generalized, with febrile seizures plus, type 7, 613863 Insensitivity to pain, channelopathy-associated, 243000 Erythermalgia, primary, 133020 Erythermalgia, Primary Tags
Red Red List (low evidence)	SLC25A32	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Phenotypes Riboflavin-responsive exericise intolerance, 616839 Tags
Red Red List (low evidence)	SLC6A5	2 reviews 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Brain channelopathy v1.46 Expert Review Red NHS GMS Wessex and West Midlands GLH Phenotypes Hyperekplexia 3, 614618 Tags
Red Red List (low evidence)	SMPD4	3 reviews 2 red	Not set	Sources London North GLH NHS GMS Wessex and West Midlands GLH Tags
Red Red List (low evidence)	SYT14	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Hereditary ataxia v1.148 NHS GMS Wessex and West Midlands GLH Phenotypes Spinocerebellarataxia,autosomalrecessive11,614229 Autosomal recessive spinocerebellar ataxia 11, 614229 Tags
Red Red List (low evidence)	TBP	1 review 1 red	Unknown	Sources Expert Review Red Hereditary ataxia v1.148 Phenotypes Spinocerebellarataxia17,607136{Parkinsondisease,susceptibilityto},168600 Tags currently-ngs-unreportable nucleotide-repeat-expansion
Red Red List (low evidence)	TDP1	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Hereditary ataxia v1.148 NHS GMS Wessex and West Midlands GLH Phenotypes Autosomal recessive spinocerebellar ataxia with axonal neuropathy, 607250 Spinocerebellar ataxia, autosomal recessive with axonal neuropathy Tags
Red Red List (low evidence)	TGM6	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Hereditary ataxia v1.148 London North GLH NHS GMS Wessex and West Midlands GLH Phenotypes Spinocerebellar ataxia 35, 613908 Spinocerebellar ataxia 35 Tags
Red Red List (low evidence)	THG1L	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Phenotypes Cerebellar ataxia with developmental delay Tags
Red Red List (low evidence)	TINF2	3 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red London North GLH NHS GMS Wessex and West Midlands GLH Phenotypes Autosomal dominant dyskeratosis congenita 3, 613990 Revesz syndrome, 268130 Tags
Red Red List (low evidence)	TSEN34	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Hereditary ataxia v1.148 NHS GMS Wessex and West Midlands GLH Phenotypes Pontocerebellar hypoplasia 2C, 612390 Pontocerebellar hypoplasia 2C (612390) Tags
Red Red List (low evidence)	TTC19	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Hereditary ataxia v1.148 London North GLH NHS GMS Wessex and West Midlands GLH Phenotypes Mitochondrial complex III deficiency nuclear type II, 615157 Mitochondrial complex III deficiency, nuclear type 2, 615157 Tags
Red Red List (low evidence)	TUBA8	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Phenotypes Complex cortical dysplasia with other brain malformations 8, 613180 Tags
Red Red List (low evidence)	TUBB	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Wessex and West Midlands GLH Phenotypes Complex cortical dysplasia with other brain malformations 6, 615771 Tags
Red Red List (low evidence)	TUBB2A	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Wessex and West Midlands GLH Phenotypes Complex cortical dysplasia with other brain malformations 5, 615763 Tags
Red Red List (low evidence)	UBR4	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Hereditary ataxia v1.148 NHS GMS Wessex and West Midlands GLH Phenotypes Episodic ataxia Episodic ataxia type 8, 616055 Tags
Red Red List (low evidence)	ZNF592	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Hereditary ataxia v1.148 NHS GMS Wessex and West Midlands GLH Phenotypes Galloway-Mowat Syndrome 1, 251300 Spinocerebellar ataxia, autosomal recessive 5 Tags

Major version comments

2019-11-29 11:58 Louise Daugherty (Genomics England Curator) promoted panel to 2.0
The content of this panel (version 1.211) was signed off under NHS Genomic Medicine Service governance on (29/11/2019). The panel was promoted to the next major version (version 2.0) as a result of this.

2019-01-09 15:44 Louise Daugherty (Genomics England Curator) promoted panel to 1.0
Checked panel against panel constituents. Ready to promote to version 1.

Hereditary ataxia - adult onset (Version 2.0)

6 reviewers

253 Entities

252 reviewed, 186 green

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