FGF14_SCA27B_GAA

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green FGF14_SCA27B_GAA STR in Incidentalome


Version 1.48

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
  • Literature
Phenotypes
  • Spinocerebellar ataxia type 27B MONDO:0012247
  • Spinocerebellar ataxia 50
  • late-onset cerebellar ataxias (LOCAs)

Green FGF14_SCA27B_GAA 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 Green
    • Expert Review Green
    • Literature
    Phenotypes
    • Spinocerebellar ataxia type 27B MONDO:0012247
    • Spinocerebellar ataxia 50
    • late-onset cerebellar ataxias (LOCAs)

    Green FGF14_SCA27B_GAA STR in Repeat Disorders


    Version 1.15

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Spinocerebellar ataxia type 27B MONDO:0012247
    • Spinocerebellar ataxia 50
    • late-onset cerebellar ataxias (LOCAs)