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The obtained lists of genes were compared, combined and curated based on stringent criteria with respect to human CHD caused by variants in these genes. Genes were only included in the hcCHD list if variants in the respective gene had been reported as the monogenic cause for CHD (isolated or in the context of a syndrome) in at least three independent familial or sporadic cases in at least two separate publications. In a few cases, single publications reporting multiple individual de novo or autosomal dominant cases with monogenic causative variants were deemed sufficient for inclusion of the respective gene. In contrast, we excluded genes whose evidence for disease causation is solely based on animal models, or genes which are only predicted to cause CHD based on expression and known protein function, or non-cardiac phenotypes resembling those of known CHD genes.
How to cite this resource:
- Szot, J. O., Cuny, H., Blue, G. M., Humphreys, D. T., Ip, E., Harrison, K., ... Dunwoodie, S. L. (2018). A Screening Approach to Identify Clinically Actionable Variants Causing Congenital Heart Disease in Exome Data. Circ Genom Precis Med, 11(3), e001978. DOI:10.1161/circgen.117.001978 PMID:29555671
- Alankarage, D., Ip, E., Szot, J. O., Munro, J., Blue, G. M., Harrison, K., ... Dunwoodie, S. L. (2018). Identification of clinically actionable variants from genome sequencing of families with congenital heart disease. Genet Med. DOI:10.1038/s41436-018-0296-x PMID:30293987