Genomics England

Relevant disorders: R130

Signed off date: 30 Oct 2024

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

4 green entities

Entity rating	Entity	Mode of inheritance	Mode of pathogenicity	Tags
Green	CACNA1C	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	KCNH2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Other	N/A
Green	KCNJ2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Other	N/A
Green	KCNQ1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A