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  1. Genes and Genomic Entities
  2. FXN_FRDA_GAA

FXN_FRDA_GAA

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green FXN_FRDA_GAA STR in Mendeliome


Version 1.4851

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

Green FXN_FRDA_GAA STR in Mitochondrial disease


Level 2: Metabolic disorders
Version 1.23

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 Deafness_IsolatedAndComplex


    Level 2: Hearing and ear disorders
    Version 1.361

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

    Green FXN_FRDA_GAA STR in Ataxia


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.203

    Component of the following Super Panels:

  • Movement Disorders Superpanel
  • Neurodegenerative disease - adult onset
  • Progressive Neurological Conditions

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

    Green FXN_FRDA_GAA STR in Hereditary Spastic Paraplegia


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.149

    Component of the following Super Panels:

  • 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


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.190

    Component of the following Super Panels:

  • 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 0.272

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