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  1. Genes and Genomic Entities
  2. RFC1_CANVAS_ANNGN

RFC1_CANVAS_ANNGN

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green RFC1_CANVAS_ANNGN 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 BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Parkinson disease MONDO:0005180

    Green RFC1_CANVAS_ANNGN STR in Mendeliome


    Version 1.2511

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

    Green RFC1_CANVAS_ANNGN STR in Hereditary Neuropathy_CMT - isolated


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.54

    Component of the following Super Panels:

  • Hereditary Neuropathy_CMT_IsolatedAndComplex
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome MONDO:0044720

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

    Green RFC1_CANVAS_ANNGN STR in Repeat Disorders


    Version 0.256

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