Genomics England
GMS Panels
Panels
Genes and Entities

MYF5

myogenic factor 5
OMIM: 159990
PanelMode of inheritanceDetails
2 panels
Green
in Congenital fibrosis of the extraocular muscles
R-numbers: R46
Signed-off version 2.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ophthalmoplegia, external, with rib and vertebral anomalies, OMIM:618155
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
External Ophthalmoplegia Rib and Vertebral Anomalies