Genomics England

Relevant disorders: Familial hypercholesterolaemia - targeted panel, R134

Signed off date: 22 Mar 2023

Panel types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off

5 green entities

Entity rating	Entity	Mode of inheritance	Mode of pathogenicity	Tags
Green	APOB	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	APOE	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	LDLR	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	LDLRAP1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PCSK9	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	N/A