Evidence map›Paper›PMID 39132495›Full record

ArticlemedRxiv : the preprint server for health sciences2024

ClinGen Hereditary Cardiovascular Disease Gene Curation Expert Panel: Reappraisal of Genes associated with Hypertrophic Cardiomyopathy.

Sophie Hespe, Amber Waddell, Babken Asatryan, Emma Owens, Courtney Thaxton, Mhy-Lanie Adduru, Kailyn Anderson, Emily E Brown, Lily Hoffman-Andrews, Elizabeth Jordan and 20 more

Abstract readPreprint
PubMed Full text at PMC Publisher
In one paragraph

Article in medRxiv : the preprint server for health sciences, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

30 authors.

Sophie HespeGenomics and Inherited Disease Program, Garvan Institute of Medical Research, and UNSW Sydney, Sydney, NSW, Australia.
Amber WaddellDepartment of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
Babken AsatryanDivision of Cardiology, Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.ORCID 0000-0002-0050-5717
Emma OwensDepartment of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
Courtney ThaxtonDepartment of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.ORCID 0000-0002-6733-369X
Mhy-Lanie AdduruPredictiv Care, San Francisco, CA, USA.
Kailyn AndersonDivision of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA.
Emily E BrownDivision of Cardiology, Department of Medicine, Johns Hopkins University, Baltimore, MD, USA.
Lily Hoffman-AndrewsDivision of Cardiovascular Medicine, Department of Medicine, Center for Inherited Cardiovascular Disease, Perelman School of Medicine at the University of Pennsylvania, Perelman Center for Advanced Medicine, Philadelphia, PA, USA.ORCID 0000-0001-8021-8306
Elizabeth JordanDivision of Human Genetics, Department of Internal Medicine, Ohio State University, Columbus, OH, USA.ORCID 0000-0002-2073-3258
Katherine JosephsNational Heart and Lung Institute and MRC Laboratory of Medical Science, Imperial College London, London, UK.ORCID 0000-0001-7688-615X
Megan MayersDepartment of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
Stacey PetersDepartment of Cardiology and Genomic Medicine, Royal Melbourne Hospital, Melbourne, Australia.ORCID 0000-0002-3593-3228
Fergus StaffordGenomics and Inherited Disease Program, Garvan Institute of Medical Research, and UNSW Sydney, Sydney, NSW, Australia.
Richard D BagnallBioinformatics and Molecular Genetics at Centenary Institute, University of Sydney, Sydney, Australia.ORCID 0000-0002-2476-9864
Lucas BronickiDepartment of Pathology and Laboratory Medicine, University of Ottawa, Ottawa, Ontario, Canada.
Bert CallewaertDepartment of Biomolecular Medicine, Ghent University, Ghent, Belgium.ORCID 0000-0002-9743-4205
C Anwar A ChahalCenter for Inherited Cardiovascular Diseases, WellSpan Health, Lancaster, Pennsylvania, USA; Mayo Clinic, Rochester, MN, USA; Barts Heart Centre, London, UK, William Harvey Research Institute, Queen Mary University of London, London, UK.
Cynthia A JamesDivision of Cardiology, Department of Medicine, Johns Hopkins University, Baltimore, MD, USA.ORCID 0000-0001-8040-4600
Olga JarinovaDepartment of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.
Andrew P LandstromDepartment of Pediatrics and Cell Biology, Duke University School of Medicine, Durham, NC, USA.ORCID 0000-0002-1878-9631
Elizabeth M McNallyCenter for Genetic Medicine, Dept of Medicine (Cardiology), Northwestern University Feinberg School of Medicine, Chicago, IL, USA.ORCID 0000-0002-1221-719X
Brittney MurrayDivision of Cardiology, Department of Medicine, Johns Hopkins University, Baltimore, MD, USA.
Laura Muiño-MosqueraCenter for Medical Genetics, Ghent University Hospital, Ghent, Belgium.ORCID 0000-0002-3094-7807
Victoria ParikhStanford Center for Inherited Cardiovascular Disease, Division of Cardiovascular Medicine, Department of Medicine, Stanford University School of Medicine, Stanford, CA, USA.ORCID 0000-0002-5138-5559
Chloe ReuterStanford Center for Inherited Cardiovascular Disease, Division of Cardiovascular Medicine, Department of Medicine, Stanford University School of Medicine, Stanford, CA, USA.ORCID 0000-0002-0429-9922
Roddy WalshAmsterdam University Medical Centre, University of Amsterdam, Heart Center, Department of Experimental Cardiology, Amsterdam Cardiovascular Sciences, Amsterdam, The Netherlands.ORCID 0000-0001-5092-8825
Bess WayburnClinical Genomics, Ambry Genetics, Aliso Viejo, CA, USA.
James S WareNational Heart and Lung Institute and MRC Laboratory of Medical Science, Imperial College London, London, UK.ORCID 0000-0002-6110-5880
Jodie InglesGenomics and Inherited Disease Program, Garvan Institute of Medical Research, and UNSW Sydney, Sydney, NSW, Australia.ORCID 0000-0002-4846-7676

Funding

The Clinical Genome Resource – Advancing genomic medicine through biocuration and expert assessment of genes and variants at scaleU24HG009650 · NHGRI · UNIV OF NORTH CAROLINA CHAPEL HILL · PI JONATHAN S BERG, Jessica Ezzell Hunter · 2021 to 2026
$30.0M
Northwestern Genomic Risk Assessment and Management ProgramU01HG011169 · NHGRI · NORTHWESTERN UNIVERSITY AT CHICAGO · PI REX L CHISHOLM, Elizabeth M McNally · 2020 to 2026
$7.4M
Cardiomyopathy Genomes ProjectR01HL128075 · NHLBI · NORTHWESTERN UNIVERSITY AT CHICAGO · PI MCNALLY, ELIZABETH M, NOBREGA, MARCELO A. · 2015 to 2023
$5.3M
NHGRI NIH HHS U01 HG011169NHGRI NIH HHS U24 HG009650NHLBI NIH HHS R01 HL128075
6 · The paper itself

Abstract

Background: Hypertrophic cardiomyopathy (HCM) is an inherited cardiac condition affecting ~1 in 500 and exhibits marked genetic heterogeneity. Previously published in 2019, 57 HCM-associated genes were curated providing the first systematic evaluation of gene-disease validity. Here we report work by the ClinGen Hereditary Cardiovascular Disorders Gene Curation Expert Panel (HCVD-GCEP) to reappraise the clinical validity of previously curated and new putative HCM genes. Methods: The ClinGen systematic gene curation framework was used to re-classify the gene-disease relationships for HCM and related syndromic entities involving left ventricular hypertrophy. Genes previously curated were included if their classification was not definitive, and if the time since curation was >2-3 years. New genes with literature assertions for HCM were included for initial evaluation. Existing genes were curated for new inheritance patterns where evidence existed. Curations were presented on twice monthly calls, with the HCVD-GCEP composed of 29 individuals from 21 institutions across 6 countries. Results: Thirty-one genes were re-curated and an additional 5 new potential HCM-associated genes were curated. Among the re-curated genes, 17 (55%) genes changed classification: 1 limited and 4 disputed (from no known disease relationship), 9 disputed (from limited), and 3 definitive (from moderate). Among these, 3 (10%) genes had a clinically relevant upgrade, including Conclusions: We report 29 genes with definitive, strong or moderate evidence of causation for HCM or isolated LVH, including sarcomere, sarcomere-associated and syndromic conditions.

Identifiers

PMID39132495
PMCPMC11312670

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.