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The Clinical Genome Resource (ClinGen) Familial Hypercholesterolemia Variant Curation Expert Panel consensus guidelines for LDLR variant classification
JR. Chora, MA. Iacocca, L. Tichý, H. Wand, CL. Kurtz, H. Zimmermann, A. Leon, M. Williams, SE. Humphries, AJ. Hooper, M. Trinder, LR. Brunham, A. Costa Pereira, CE. Jannes, M. Chen, J. Chonis, J. Wang, S. Kim, T. Johnston, P. Soucek, M. Kramarek,...
Jazyk angličtina Země Spojené státy americké
Typ dokumentu časopisecké články, Research Support, N.I.H., Extramural, práce podpořená grantem
Grantová podpora
R01 DK106236
NIDDK NIH HHS - United States
R01 DK120565
NIDDK NIH HHS - United States
R01 DK116750
NIDDK NIH HHS - United States
P30 DK116074
NIDDK NIH HHS - United States
PG08/008
British Heart Foundation - United Kingdom
U24 HD093487
NICHD NIH HHS - United States
U24 HD093483
NICHD NIH HHS - United States
U24 HD093486
NICHD NIH HHS - United States
U41 HG006834
NHGRI NIH HHS - United States
U41 HG009649
NHGRI NIH HHS - United States
U41 HG009650
NHGRI NIH HHS - United States
- MeSH
- genetická variace genetika MeSH
- genetické testování metody MeSH
- genom lidský * genetika MeSH
- genomika metody MeSH
- hyperlipoproteinemie typ II * genetika MeSH
- lidé MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
- Research Support, N.I.H., Extramural MeSH
PURPOSE: 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. METHODS: The multidisciplinary FH Variant Curation Expert Panel met in person and through frequent emails and conference calls to develop LDLR-specific modifications of ACMG/AMP guidelines. Through iteration, pilot testing, debate, and commentary, consensus among experts was reached. RESULTS: The consensus LDLR variant modifications to existing ACMG/AMP guidelines include (1) alteration of population frequency thresholds, (2) delineation of loss-of-function variant types, (3) functional study criteria specifications, (4) cosegregation criteria specifications, and (5) specific use and thresholds for in silico prediction tools, among others. CONCLUSION: Establishment of these guidelines as the new standard in the clinical laboratory setting will result in a more evidence-based, harmonized method for LDLR variant classification worldwide, thereby improving the care of patients with FH.
Academic Medical Center Erasmus University Rotterdam Netherlands
Bristol Genetics Laboratory North Bristol NHS Trust Bristol United Kingdom
Center for Inherited Cardiovascular Disease Stanford Health Care Stanford University Stanford CA
Centre for Cardiovascular Surgery and Transplantation Brno Czech Republic
Centre of Molecular Biology and Gene Therapy University Hospital Brno Brno Czech Republic
Color Health Inc Burlingame CA
Department of Genetics School of Medicine University of North Carolina at Chapel Hill Chapel Hill NC
Department of Paediatric Laboratory Medicine The Hospital for Sick Children Toronto Ontario Canada
Faculty of Medicine Masaryk University Brno Czech Republic
Citace poskytuje Crossref.org
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