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 3.2
Latest signed off version: v3.1 (23 Jun 2022)

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 1.299

    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 3.2
    Latest signed off version: v3.1 (23 Jun 2022)

    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 4.5
    Latest signed off version: v4.4 (23 Jun 2022)

    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 3.2
    Latest signed off version: v3.1 (23 Jun 2022)

    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 2.2
    Latest signed off version: v2.1 (23 Jun 2022)

    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 2.7
    Latest signed off version: v2.6 (30 Jun 2022)

    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 1.117

    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 1.105

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    • 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 1.76

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

    Amber ATXN1_CAG STR in Ataxia and cerebellar anomalies - narrow panel


    Version 3.2
    Latest signed off version: v3.1 (23 Jun 2022)

    Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • 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 1.299

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    • 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 1.289

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

    Amber ATXN1_CAG STR in Hereditary spastic paraplegia - childhood onset


    Version 3.2
    Latest signed off version: v3.1 (23 Jun 2022)

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

    Green ATXN1_CAG STR in Hereditary spastic paraplegia - adult onset


    Version 2.2
    Latest signed off version: v2.1 (23 Jun 2022)

    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 3.2
    Latest signed off version: v3.1 (23 Jun 2022)

    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 1.442

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    • 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 4.5
    Latest signed off version: v4.4 (23 Jun 2022)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • 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 3.2
    Latest signed off version: v3.1 (23 Jun 2022)

    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 2.2
    Latest signed off version: v2.1 (23 Jun 2022)

    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