FMR1_FXTAS_CGG

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green FMR1_FXTAS_CGG STR in Early-onset Parkinson disease


Level 2: Neurology and neurodevelopmental disorders
Version 2.35

Component of the following Super Panels:

  • Neurodegenerative disease - adult onset
  • Progressive Neurological Conditions
  • Tremors_Superpanel
  • review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Fragile X tremor/ataxia syndrome MIM#300623

    Green FMR1_FXTAS_CGG 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 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Fragile X tremor/ataxia syndrome MIM#300623
    Tags
    • STR

    Green FMR1_FXTAS_CGG STR in Repeat Disorders


    Version 0.256

    review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Fragile X tremor/ataxia syndrome MIM#300623
    Tags
    • adult-onset