Clinical Domain Working Groups
Familial Hypercholesterolemia Variant Curation Expert PanelMembership Documents
Familial Hypercholesterolemia is an autosomal disorder of lipid metabolism. Patients have increased LDL values from birth, and an increased cardiovascular risk, making early diagnosis and treatment imperative for improved prognosis. Three main causative genes have been associated with FH: LDLR, APOB and PCSK9. Identification of a pathogenic variant in any of these genes provides a definitive diagnosis.
The goal of the FH Variant Curation Expert Panel is to specifiy the ACMG guidelines for FH in order to correctly classify the thousands of variants that have been identified in these three genes.
Expert Panel Status
ClinGen Familial Hypercholesterolemia Variant Curation Expert Panel COIConflict Of Interest (COI) - April 24, 2019
Clinical Genetic Testing for Familial Hypercholesterolemiapublications - August 7, 2018
Expert Panel Membership
Membership spans many fields, including genetics, medical, academia, and industry.