Genomics England

Relevant disorders: Catecholaminergic Polymorphic Ventricular Tachycardia, R129

Signed off date: 30 Oct 2024

Panel types: Rare Disease 100K, GMS Rare Disease, Component Of Super Panel, GMS signed-off

7 green entities

Entity rating	Entity	Mode of inheritance	Mode of pathogenicity	Tags
Green	CALM1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CALM2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CALM3	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CASQ2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RYR2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TECRL	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRDN	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A