RFC4

replication factor C subunit 4
OMIM: 102577, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green RFC4 in Cerebellar and Pontocerebellar Hypoplasia


Level 2: Neurology and neurodevelopmental disorders
Version 1.78

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Morimoto-Ryu-Malicdan neuromuscular syndrome, MIM# 621010

Green RFC4 in Mendeliome


Version 1.2302

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Morimoto-Ryu-Malicdan neuromuscular syndrome, MIM# 621010

Green RFC4 in Muscular dystrophy and myopathy_Paediatric


Level 2: Neurology and neurodevelopmental disorders
Version 1.85

Component of the following Super Panels:

  • Myopathy Superpanel
  • Neuromuscular Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Morimoto-Ryu-Malicdan neuromuscular syndrome, MIM# 621010

    Green RFC4 in Deafness_IsolatedAndComplex


    Level 2: Hearing and ear disorders
    Version 1.210

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • RFC4-related multisystem disorder

    Green RFC4 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.63

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Neurodevelopmental disorder, MONDO:0700092, RFC4-related