ATXN1

ataxin 1
OMIM: 601556, Gene2Phenotype

20 panels

Panel Reviews Mode of inheritance Details
20 panels

Red ATXN1 in Ataxia and cerebellar anomalies - narrow panel


Version 2.281
Latest signed off version: v2.23 (8 Oct 2020)

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset
  • review Other
    Sources
    • Expert Review Red
    Phenotypes
    • Spinocerebellar ataxia 1, OMIM:164400
    Tags
    • nucleotide-repeat-expansion
    • currently-ngs-unreportable

    Red ATXN1 in Hereditary ataxia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.282

    review Other
    Sources
    • Expert Review Red
    • Eligibility statement prior genetic testing
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    Phenotypes
    • Spinocerebellar ataxia 1, OMIM:164400
    Tags
    • currently-ngs-unreportable
    • nucleotide-repeat-expansion

    Red ATXN1 in Neurodegenerative disorders - adult onset


    Version 2.259
    Latest signed off version: v2.178 (5 Aug 2021)

    review Other
    Sources
    • Yorkshire and North East GLH
    • NHS GMS
    • South West GLH
    • Expert Review Red
    Phenotypes
    • Spinocerebellar ataxia 1, OMIM:164400
    Tags
    • nucleotide-repeat-expansion
    • currently-ngs-unreportable

    Red ATXN1 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1496
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review Other
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • Spinocerebellar ataxia 1, OMIM:164400
    Tags
    • currently-ngs-unreportable
    • nucleotide-repeat-expansion

    Red ATXN1 in Hereditary ataxia - adult onset


    Version 2.139
    Latest signed off version: v2.13 (6 Oct 2020)

    review Other
    Sources
    • NHS GMS
    • Wessex and West Midlands GLH
    • Expert Review Red
    • Hereditary ataxia v1.148
    Phenotypes
    • Spinocerebellar ataxia 1, OMIM:164400
    Tags
    • nucleotide-repeat-expansion
    • currently-ngs-unreportable

    Red ATXN1 in Adult onset movement disorder


    Version 1.161
    Latest signed off version: v1.121 (5 Aug 2021)

    review Other
    Sources
    • NHS GMS
    • London North GLH
    Phenotypes
    • Spinocerebellar ataxia 1, OMIM:164400
    Tags
    • nucleotide-repeat-expansion
    • currently-ngs-unreportable

    Red ATXN1 in Childhood onset dystonia or chorea or related movement disorder


    Version 1.210
    Latest signed off version: v1.137 (5 Aug 2021)

    review Other
    Sources
    • Expert Review Red
    • London North GLH
    Phenotypes
    • Spinocerebellar ataxia 1, OMIM:164400
    Tags
    • nucleotide-repeat-expansion
    • currently-ngs-unreportable

    Green ATXN1 in Severe Paediatric Disorders


    Version 1.115

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Spinocerebellar ataxia 1, OMIM:164400

    Green ATXN1_CAG STR in Parkinson Disease and Complex Parkinsonism

    Level 3: Neurodegenerative disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.93

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Spinocerebellar ataxia 1, OMIM:164400
    Tags
    • STR

    Green ATXN1_CAG STR in Early onset dementia (encompassing fronto-temporal dementia and prion disease)

    Level 3: Neurodegenerative disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.64

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Spinocerebellar ataxia 1, OMIM:164400
    Tags
    • STR

    Amber ATXN1_CAG STR in Ataxia and cerebellar anomalies - narrow panel


    Version 2.281
    Latest signed off version: v2.23 (8 Oct 2020)

    Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Spinocerebellar ataxia 1, OMIM:164400
    Tags
    • STR
    • for-review
    • watchlist

    Green ATXN1_CAG STR in Hereditary ataxia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.282

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Spinocerebellar ataxia 1, OMIM:164400
    Tags
    • STR

    Green ATXN1_CAG STR in Hereditary spastic paraplegia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.276

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Spinocerebellar ataxia 1, OMIM:164400
    Tags
    • STR

    Amber ATXN1_CAG STR in Hereditary spastic paraplegia - childhood onset


    Version 2.122
    Latest signed off version: v2.18 (8 Oct 2020)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Spinocerebellar ataxia 1, OMIM:164400
    Tags
    • STR

    Green ATXN1_CAG STR in Hereditary spastic paraplegia - adult onset


    Version 1.88
    Latest signed off version: v1.27 (5 Aug 2021)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • South West GLH
    • London North GLH
    • Expert Review Green
    • Expert list
    Phenotypes
    • Spinocerebellar ataxia 1, OMIM:164400
    Tags
    • STR

    Amber ATXN1_CAG STR in Neurodegenerative disorders - adult onset


    Version 2.259
    Latest signed off version: v2.178 (5 Aug 2021)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • NHS GMS
    • South West GLH
    • London North GLH
    • Expert list
    Phenotypes
    • Spinocerebellar ataxia 1, OMIM:164400
    Tags
    • STR
    • for-review
    • watchlist

    Green ATXN1_CAG STR in Hereditary neuropathy

    Level 3: Motor and Sensory Disorders of the PNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.432

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Spinocerebellar ataxia 1, OMIM:164400
    Tags
    • STR

    No list ATXN1_CAG STR in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1496
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Removed
    • Expert list
    Phenotypes
    • Spinocerebellar ataxia 1, OMIM:164400
    Tags
    • STR
    • curated_removed

    Green ATXN1_CAG STR in Hereditary ataxia - adult onset


    Version 2.139
    Latest signed off version: v2.13 (6 Oct 2020)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • London North GLH
    • NHS GMS
    • Wessex and West Midlands GLH
    • Expert Review Green
    • Expert list
    Phenotypes
    • Spinocerebellar ataxia 1, OMIM:164400
    Tags
    • STR

    Amber ATXN1_CAG STR in Adult onset movement disorder


    Version 1.161
    Latest signed off version: v1.121 (5 Aug 2021)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • NHS GMS
    • Expert list
    Phenotypes
    • Spinocerebellar ataxia 1, OMIM:164400
    Tags
    • STR
    • for-review
    • watchlist