Genomics England
GMS Panels
Panels
Genes and Entities

MYOD1

myogenic differentiation 1
OMIM: 159970
PanelMode of inheritanceDetails
1 panel
Green
in Congenital muscular dystrophy and congenital myopathy
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
R-numbers: R432
Signed-off version 1.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies, OMIM:618975