International Evidence Based Reappraisal of Genes Associated With Arrhythmogenic Right Ventricular Cardiomyopathy Using the Clinical Genome Resource Framework.
desmosomes
diagnosis
genes
genetic testing
tachycardia
Journal
Circulation. Genomic and precision medicine
ISSN: 2574-8300
Titre abrégé: Circ Genom Precis Med
Pays: United States
ID NLM: 101714113
Informations de publication
Date de publication:
06 2021
06 2021
Historique:
pubmed:
9
4
2021
medline:
15
2
2022
entrez:
8
4
2021
Statut:
ppublish
Résumé
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited disease characterized by ventricular arrhythmias and progressive ventricular dysfunction. Genetic testing is recommended, and a pathogenic variant in an ARVC-associated gene is a major criterion for diagnosis according to the 2010 Task Force Criteria. As incorrect attribution of a gene to ARVC can contribute to misdiagnosis, we assembled an international multidisciplinary ARVC Clinical Genome Resource Gene Curation Expert Panel to reappraise all reported ARVC genes. Following a comprehensive literature search, six 2-member teams conducted blinded independent curation of reported ARVC genes using the semiquantitative Clinical Genome Resource framework. Of 26 reported ARVC genes, only 6 ( Using the Clinical Genome Resource approach to gene-disease curation, only 8 genes (
Sections du résumé
BACKGROUND
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited disease characterized by ventricular arrhythmias and progressive ventricular dysfunction. Genetic testing is recommended, and a pathogenic variant in an ARVC-associated gene is a major criterion for diagnosis according to the 2010 Task Force Criteria. As incorrect attribution of a gene to ARVC can contribute to misdiagnosis, we assembled an international multidisciplinary ARVC Clinical Genome Resource Gene Curation Expert Panel to reappraise all reported ARVC genes.
METHODS
Following a comprehensive literature search, six 2-member teams conducted blinded independent curation of reported ARVC genes using the semiquantitative Clinical Genome Resource framework.
RESULTS
Of 26 reported ARVC genes, only 6 (
CONCLUSIONS
Using the Clinical Genome Resource approach to gene-disease curation, only 8 genes (
Identifiants
pubmed: 33831308
doi: 10.1161/CIRCGEN.120.003273
pmc: PMC8205996
mid: NIHMS1702750
doi:
Types de publication
Clinical Trial
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
e003273Subventions
Organisme : NHLBI NIH HHS
ID : F32 HL086223
Pays : United States
Organisme : NHGRI NIH HHS
ID : U24 HG009650
Pays : United States
Organisme : NHGRI NIH HHS
ID : U41 HG009650
Pays : United States
Organisme : British Heart Foundation
ID : FS/18/82/34024
Pays : United Kingdom
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