RFC1

replication factor C subunit 1
OMIM: 102579, Gene2Phenotype

11 panels

Panel Reviews Mode of inheritance Details
11 panels

Green RFC1 in Mendeliome


Version 1.2374

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

Green RFC1 in Ataxia - adult onset


Level 2: Neurology and neurodevelopmental disorders
Version 1.20

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

    Green RFC1 in Hereditary Neuropathy - complex


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.19

    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
    • Literature
    Phenotypes
    • Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome OMIM 614575
    Tags
    • STR

    Green CANVAS_ACAGG STR in Mendeliome


    Version 1.2374

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome
    • fasciculations
    • elevated serum creatine kinase levels
    • denervation

    Green CANVAS STR in Mendeliome


    Version 1.2374

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

    Green CANVAS STR in Ataxia - adult onset


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.20

    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

    Amber CANVAS_ACAGG STR in Ataxia - adult onset


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.20

    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 Amber
    • Literature
    Phenotypes
    • Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome
    • fasciculations
    • elevated serum creatine kinase levels
    • denervation

    Green CANVAS STR in Hereditary Neuropathy - complex


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.19

    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

    Amber CANVAS_ACAGG STR in Hereditary Neuropathy - complex


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.19

    Component of the following Super Panels:

  • Hereditary Neuropathy_CMT_IsolatedAndComplex
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome
    • fasciculations
    • elevated serum creatine kinase levels
    • denervation

    Green CANVAS STR in Repeat Disorders


    Version 0.168

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

    Amber CANVAS_ACAGG STR in Repeat Disorders


    Version 0.168

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome
    • fasciculations
    • elevated serum creatine kinase levels
    • denervation
    Tags
    • adult-onset