PanelApp (test)
  1. Genes and Genomic Entities
  2. THAP11_SCA51_CAG

THAP11_SCA51_CAG

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber THAP11_SCA51_CAG STR in Ataxia - adult onset


Level 2: Neurology and neurodevelopmental disorders
Version 1.62

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 Amber
    • Literature
    Phenotypes
    • Spinocerebellar ataxia 51 MONDO:0975800

    Amber THAP11_SCA51_CAG STR in Ataxia


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.162

    Component of the following Super Panels:

  • Ataxia_Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Literature
    • Expert Review Amber
    • Expert Review Amber
    • Literature
    Phenotypes
    • Spinocerebellar ataxia 51 MONDO:0975800

    Amber THAP11_SCA51_CAG STR in Repeat Disorders


    Version 0.269

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Other
    Phenotypes
    • Spinocerebellar ataxia 51 MONDO:0975800