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The website is created by research groups within the Victor Chang Cardiac Research Institute. For further information or queries regarding genes and/or variants, please contact chdgenes@victorchang.edu.au

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.

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