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  1. Genes and Genomic Entities
  2. THAP11_SCA51_CAG

THAP11_SCA51_CAG

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Amber THAP11_SCA51_CAG STR in Ataxia - adult onset


Level 2: Neurology and neurodevelopmental disorders
Version 1.46

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 Amber
    • Literature
    Phenotypes
    • Spinocerebellar ataxia 51, MIM# 620947

    Amber THAP11_SCA51_CAG STR in Repeat Disorders


    Version 0.256

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Other
    Phenotypes
    • Spinocerebellar ataxia 51, MIM# 620947