Genomics England
GMS Panels
Panels
Genes and Entities

RYR3

ryanodine receptor 3
OMIM: 180903
PanelMode of inheritanceDetails
1 panel
Green
in Congenital myopathy
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
R-numbers: R81
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
childhood-onset nemaline myopathy