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

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
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
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

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