ATXN2

ataxin 2
OMIM: 601517, ClinGen, DECIPHER

6 panels

Panel Reviews Mode of inheritance Details
6 panels

No list ATXN2 in Early-onset Parkinson disease


Level 2: Neurology and neurodevelopmental disorders
Version 2.49

Component of the following Super Panels:

  • Movement Disorders Superpanel
  • Neurodegenerative disease - adult onset
  • Progressive Neurological Conditions
  • 2 reviews MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Removed
    • Literature
    Phenotypes
    • Spinocerebellar Ataxia 2
    • Parkinsonism
    • Myoclonus
    • OMIM 183090
    Tags
    • STR

    Green ATXN2_SCA2_CAG STR in Motor Neurone Disease


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.40

    Component of the following Super Panels:

  • Neurodegenerative disease - adult onset
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Spinocerebellar ataxia 2 MIM#183090

    Green ATXN2_SCA2_CAG STR in Early-onset Parkinson disease


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.49

    Component of the following Super Panels:

  • Movement Disorders Superpanel
  • Neurodegenerative disease - adult onset
  • Progressive Neurological Conditions
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Spinocerebellar ataxia 2 MIM#183090

    Green ATXN2_SCA2_CAG STR in Mendeliome


    Version 1.4216

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Spinocerebellar ataxia 2 MIM#183090

    Green ATXN2_SCA2_CAG STR in Ataxia


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.186

    Component of the following Super Panels:

  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Spinocerebellar ataxia type 2 MONDO:0008458

    Green ATXN2_SCA2_CAG STR in Repeat Disorders


    Version 0.272

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Spinocerebellar ataxia 2 MIM#183090
    Tags
    • adult-onset
    • paediatric-onset