Congenital heart disease (CHD) is the most frequent birth defect, affecting about 1% of all live births. The causes of CHD include chromosomal aneuploidies, copy number variations, exposure to environmental factors, and pathogenic variation in single genes. 

The Congenital Heart Disease Expert Panel will develop a framework for determining the clinical validity of gene-disease relationships for CHD. The Congenital Heart Disease Expert Panel will curate and review genes for isolated and syndromic CHD that do not currently come under the purview of another GCEP. For genes that currently come under the purview of another GCEP, we will communicate and collaborate with the additional GCEP(s) to decide if a split curation is warranted. After reviewing the isolated CHD genes first, the Congenital Heart Disease Expert Panel will curate and review genes for syndromic CHD.