EP400_SCA_CAG

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber EP400_SCA_CAG STR in Incidentalome


Version 1.48

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
  • Literature
Phenotypes
  • Spinocerebellar ataxia, EP400-related MONDO:0000437
Tags
  • preprint

Amber EP400_SCA_CAG STR in Ataxia


Level 2: Neurology and neurodevelopmental disorders
Version 2.187

Component of the following Super Panels:

  • Movement Disorders Superpanel
  • Neurodegenerative disease - adult onset
  • Progressive Neurological Conditions
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Literature
    • Expert Review Amber
    • Expert Review Amber
    • Literature
    Phenotypes
    • Spinocerebellar ataxia, EP400-related MONDO:0000437
    Tags
    • preprint

    Amber EP400_SCA_CAG STR in Repeat Disorders


    Version 1.15

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Spinocerebellar ataxia, EP400-related MONDO:0000437
    Tags
    • preprint