Author(s):
Chora, Joana ; A. Iacocca, Michael ; Lisa Kurtz, C ; Carrie, Alain ; Tichy, Lukas ; E. Leigh, Sarah ; T. DiStefano, Marina ; Defesche, Joep ; J. Sijbrands, Eric ; Freiberger, Tomas ; A. Hegele, Robert ; W. Knowles, Joshua ; Bourbon, Mafalda
Date: 2018
Persistent ID: http://hdl.handle.net/10400.18/5567
Origin: Repositório Científico do Instituto Nacional de Saúde
Subject(s): Familial Hypercholesterolemia; Cardiovascular Risk; Doenças Cardio e Cérebro-vasculares
Description
Familial hypercholesterolemia (FH) is an autosomal dominant disorder of lipid metabolism associated with premature atherosclerosis and increased cardiovascular risk. Over 3,000 variants in LDLR, APOB, and PCSK9 have been identified in FH patients; however, <10% of these have been functionally proven to cause disease. The recent ACMG/AMP guidelines for standardized variant interpretation in Mendelian disorders are being used to help further classify FH-associated variants. Despite such efforts, these existing ACMG/AMP guidelines need to be modified to become more disease-specific for FH. In 2016, the Clinical Genome Resource (ClinGen) consortium FH Expert Panel was created with the goal to develop FH-specific variant interpretation guidelines