Genomics England

Genes and Entities

Recurrent episodic apnoea (Version: )

Relevant disorders: R434

Signed off date: 22 Mar 2023

Panel types: GMS Rare Disease, GMS signed-off

See this panel in PanelApp

14 green entities

Entity rating	Entity	Mode of inheritance	Mode of pathogenicity	Tags
Green	ATP1A3	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CHAT	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GLRA1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	GLRB	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KCNQ2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	KCNT1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PHOX2B	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	STR
Green	PRRT2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	RAPSN	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SCN1A	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	SCN2A	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SCN4A	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SCN8A	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SLC6A5	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A