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The Clinical Genome Resource (ClinGen) Familial Hypercholesterolemia Variant Curation Expert Panel consensus guidelines for LDLRvariant classification

Authors :
Chora, Joana R.
Iacocca, Michael A.
Tichý, Lukáš
Wand, Hannah
Kurtz, C. Lisa
Zimmermann, Heather
Leon, Annette
Williams, Maggie
Humphries, Steve E.
Hooper, Amanda J.
Trinder, Mark
Brunham, Liam R.
Costa Pereira, Alexandre
Jannes, Cinthia E.
Chen, Margaret
Chonis, Jessica
Wang, Jian
Kim, Serra
Johnston, Tami
Soucek, Premysl
Kramarek, Michal
Leigh, Sarah E.
Carrié, Alain
Sijbrands, Eric J.
Hegele, Robert A.
Freiberger, Tomáš
Knowles, Joshua W.
Bourbon, Mafalda
Source :
Genetics in Medicine; February 2022, Vol. 24 Issue: 2 p293-306, 14p
Publication Year :
2022

Abstract

In 2015, the American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology (AMP) published consensus standardized guidelines for sequence-level variant classification in Mendelian disorders. To increase accuracy and consistency, the Clinical Genome Resource Familial Hypercholesterolemia (FH) Variant Curation Expert Panel was tasked with optimizing the existing ACMG/AMP framework for disease-specific classification in FH. In this study, we provide consensus recommendations for the most common FH-associated gene, LDLR, where >2300 unique FH-associated variants have been identified.

Details

Language :
English
ISSN :
10983600 and 15300366
Volume :
24
Issue :
2
Database :
Supplemental Index
Journal :
Genetics in Medicine
Publication Type :
Periodical
Accession number :
ejs58800098
Full Text :
https://doi.org/10.1016/j.gim.2021.09.012