FXN_FRDA_GAA

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green FXN_FRDA_GAA STR in Mitochondrial disease


Level 2: Metabolic disorders
Version 0.973

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Friedreich ataxia MIM#229300

    Green FXN_FRDA_GAA 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 BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Friedreich ataxia MIM#229300
    Tags
    • STR

    Green FXN_FRDA_GAA STR in Hereditary Spastic Paraplegia - adult onset


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.13

    Component of the following Super Panels:

  • Hereditary Spastic Paraplegia Superpanel
  • Neurodegenerative disease - adult onset
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Friedreich ataxia MIM#229300

    Green FXN_FRDA_GAA STR in Hereditary Neuropathy - complex


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.27

    Component of the following Super Panels:

  • Hereditary Neuropathy_CMT_IsolatedAndComplex
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Friedreich ataxia MIM#229300

    Green FXN_FRDA_GAA STR in Repeat Disorders


    Version 0.256

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Friedreich ataxia MIM#229300
    Tags
    • paediatric-onset