1. Genes and Genomic Entities
  2. RFC4

RFC4

replication factor C subunit 4
OMIM: 102577, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Green RFC4 in Congenital myopathy


Level 2: Neurology
Version 6.45
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Literature
    Phenotypes
    • congenital myopathy, MONDO:0019952
    Green RFC4 in Monogenic hearing loss


    Level 2: Audiology
    Version 5.63
    Latest signed off version: v5.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Literature
    Phenotypes
    • sensorineural hearing loss disorder, MONDO:0020678