Genomics England
GMS Panels
Panels
Genes and Entities

RYR3

ryanodine receptor 3
OMIM: 180903
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
Congenital myopathy 20, OMIM:620310, Nemaline myopathy, MONDO:0018958