ATXN3

ataxin 3
OMIM: 607047, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

No list ATXN3 in Early-onset Parkinson disease


Level 2: Neurology and neurodevelopmental disorders
Version 2.3

Component of the following Super Panels:

  • Neurodegenerative disease - adult onset
  • Progressive Neurological Conditions
  • Tremors_Superpanel
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Removed
    • Literature
    Phenotypes
    • Spinocerebellar 3
    • Machado Joseph disease
    • Ataxia
    • Parkinsonism
    • OMIM 109150
    Tags
    • STR

    No list ATXN3 in Ataxia - adult onset


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.16

    Component of the following Super Panels:

  • Ataxia_Superpanel
  • Neurodegenerative disease - adult onset
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Removed
    • Expert list
    Phenotypes
    • Machado-Joseph disease MIM#109150
    • spindocerebellar ataxia 3
    Tags
    • STR

    Green SCA3 STR in Mendeliome


    Version 1.1891

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Machado-Joseph disease MIM#109150
    • Spinocerebellar ataxia type 3

    Green SCA3 STR in Ataxia - adult onset


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.16

    Component of the following Super Panels:

  • Ataxia_Superpanel
  • Neurodegenerative disease - adult onset
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Machado-Joseph disease MIM#109150
    • Spinocerebellar ataxia type 3
    Tags
    • STR

    Green SCA3 STR in Repeat Disorders


    Version 0.167

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Machado-Joseph disease MIM#109150
    • Spinocerebellar ataxia type 3
    Tags
    • adult-onset
    • paediatric-onset