RFC1_CANVAS_ANNGN

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green RFC1_CANVAS_ANNGN STR in Early-onset Parkinson disease


Level 2: Neurology and neurodevelopmental disorders
Version 2.55

Component of the following Super Panels:

  • Movement Disorders Superpanel
  • Neurodegenerative disease - adult onset
  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Parkinson disease MONDO:0005180

    Green RFC1_CANVAS_ANNGN STR in Mendeliome


    Version 1.4851

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome MIM#614575

    Green RFC1_CANVAS_ANNGN 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
    • Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome MIM#614575
    Tags
    • STR

    Green RFC1_CANVAS_ANNGN 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
    • Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome MIM#614575
    Tags
    • STR

    Green RFC1_CANVAS_ANNGN STR in Repeat Disorders


    Version 0.272

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome MIM#614575
    Tags
    • adult-onset