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ClinGen Congenital Heart Disease GCEP and VCEP Eva ...
ClinGen Congenital Heart Disease GCEP and VCEP Evaluating the Clinical Validity of Gene-Disease Relationships in Isolated Congenital Heart Disease
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The document provides a summary of gene curation evidence related to congenital heart disease (CHD) on the ClinGen Website. It focuses on the classification of variants in genes such as GATA4, MYH6, NKX2-5, and NR2F2. The evidence codes being utilized include PP3/BP4 and PM5/PS1. The status of various genes in terms of molecular inheritance, genetic evidence, and experimental evidence is listed, with genes like GATA4, NKX2-5, MYH6, and NR2F2 classified as definitively associated with CHD. The document also presents information on allele frequencies and population codes for these genes. Those interested in joining the expert panel are directed to contact Enyonam Edoh for further information. This project is part of the ClinGen Congenital Heart Disease Genetic Clinical Domain Working Groups, funded by NIH-U24 Grant. The document also references related studies such as one by Strande et al. (2017) and the Pediatric Cardiac Genomics Consortium. Overall, the document outlines the gene curation efforts and evidence summaries for genes linked to CHD, utilizing specific criteria and evidence codes for classification and further research.
Keywords
gene curation
evidence
congenital heart disease
ClinGen Website
GATA4
MYH6
NKX2-5
NR2F2
variants classification
allele frequencies
Enyonam Edoh (eedoh@broadinstitute.org)
© 2024 American College of Medical Genetics and Genomics. All rights reserved.
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