Familial hypercholesterolaemia
Gene: ABCG8On the Inherited Cardiac Condition Genes panel for Familial Hypercholesterolaemia reported in: Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes, Pua et al, Journal of Cardiovascular Translational Research, online Feb 2016 (doi:10.1007/s12265-016-9673-5). The panel contains disease-causing, putatively pathogenic, research and phenocopy genes, and it is unclear from the publication whether this gene falls into the disease-causing category. No. of mutations indicated in supplemental table = 1.
Created: 19 Feb 2016, 2:46 p.m.
Sitosterolaemia is a recessive disorder which can have similar clinical features to FH.Created: 2 Dec 2015, 11:01 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
210250
This gene has been classified as Green List (High Evidence).
Mode of inheritance for ABCG8 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
ABCG8 was added to Familial hypercholesterolaemiapanel. Source: Emory Genetics Laboratory
ABCG8 was added to Familial hypercholesterolaemiapanel. Sources: Eligibility statement prior genetic testing