Familial hypercholesterolaemia - targeted panel (Version: )

Relevant disorders: R134
Signed off date: 17 Feb 2020
Panel types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
5 green entities
Entity ratingEntityMode of inheritanceMode of pathogenicityTags
Green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLoss-of-function variants DO NOT cause this phenotypeN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLoss-of-function variants DO NOT cause this phenotypeN/A