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Title: Adaptation of ACMG/AMP guidelines for variant interpretation in familial hypercholesterolemia – a ClinGen FH Expert Panel pilot study
Author: 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
Keywords: Familial Hypercholesterolemia
Cardiovascular Risk
Doenças Cardio e Cérebro-vasculares
Issue Date: May-2018
Publisher: Instituto Nacional de Saúde Doutor Ricardo Jorge, IP
Abstract: 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
Appears in Collections:DPSPDNT - Posters/abstracts em congressos internacionais

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