However, over the years, pathogenic GATA6 variants with autosomal dominant mode of inheritance have been reported in individuals with TOF, pulmonary atresia with ventricular septal defect (PA/VSD), PVS, DORV, and transposition of the great arteries (TGA) as well as isolated ASD, VSD, and atrioventricular septal defect (AVSD) [2,38,60]. The gene discussed is GATA6; the disease is ventricular septal defect 1.