Genomics England

Relevant disorders: R371

Signed off date: 30 Nov 2022

Panel types: GMS Rare Disease, GMS signed-off

3 green entities

Entity rating	Entity	Mode of inheritance	Mode of pathogenicity	Tags
Green	CACNA1S	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	RYR1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	STAC3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A