Genomics England
GMS Panels
Panels
Genes and Entities

RFC4

replication factor C subunit 4
OMIM: 102577
PanelMode of inheritanceDetails
2 panels
Green
in Congenital myopathy
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
R-numbers: R81
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
congenital myopathy, MONDO:0019952
Green
in Monogenic hearing loss
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R67
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
sensorineural hearing loss disorder, MONDO:0020678