| Gene | Inheritance | Cardiac anatomy | Species | Reference |
| iv | AR | DORV (12%) | Mouse | 72 |
| CAVC (24%) | ||||
| Common atrium (17%) | ||||
| Sinus venosus (9%) | ||||
| Platelet-derived growth factor receptor alpha subunit | AR | DORV | Mouse | 86 |
| TA | ||||
| Facial cleft | ||||
| RXR alpha | AR | DORV (17%) | Mouse | 82 |
| Hypo compact zone (94%) | ||||
| VSD (94%) | ||||
| RXR alpha/RAR alpha 1 [RXR∝α−/−, RARα−/+] double mutant embryo | Multigene | DORV | Mouse | 83 |
| Non-muscle myosin II-B | AR | DORV | Mouse | 85 |
| VSD | ||||
| TGFβ2 | AR | DORV (19%) | Mouse | 190 |
| VSD (94%) | ||||
| DILV (25%) | ||||
| TGFβ2 | AR | DORV (78%) | Mouse | 66 |
| VSD (38%) | ||||
| TV/MV abnormal (33%) | ||||
| Overriding TV (25%) | ||||
| AoA hypo (21%) | ||||
| ECE-1/ECE-2 [ECE-1 −/−; ECE-2 −/−, ECE-1 −/−; ECE-2 +/+] double mutant embryo | Multigene | DORV (42%) | Mouse | 84 |
| VSD (100%) | ||||
| Overriding aorta (29%) | ||||
| AV valve displaced (33%) | ||||
| Aorticopulmonary septation defects (42%) | ||||
| Great vessel malalignment (33%) | ||||
| Noggin | Transgenic | DORV (50%) | Chick | 67 |
| Truncus arteriosus (27%) | ||||
| Splotch (Pax3) | AR | DORV (6–8%) | Mouse | 78 |
| Truncus arteriosus (50–53%) | ||||
| Splotch (Pax3) | AR | DORV (58%) | Mouse | 70 |
| Truncus arteriosus (42%) | ||||
| Folbp1 (Pax3) | AR | DORV (10%) | Mouse | 79 |
| Truncus arteriosus | ||||
| VSD | ||||
| Cited2 (Tfap2 co-activator) | AR | DORV | Mouse | 91 |
| Pitx2δc | AR | DORV (28%) | Mouse | 70 |
| TGA/TGA and PS (65%) | ||||
| Truncus arteriosus (7%) | ||||
| Pitx2δc | AR | DORV (100%) | Mouse | 75 |
| Pitx2δabc | AR | DORV (majority) | Mouse | 74 |
| CAVC | ||||
| Pitx2 | AR | DORV | Mouse | 73, 76 |
| Pitx2 (iv/iv) | AR | DORV (35%) | Mouse | 71 |
| TBX1/Pitx2 | Multigene | DORV (17%) | Mouse | 77 |
| ASD (50%) | ||||
| Valve defects (50%) | ||||
| Pulmonary trunk and vein malformations (50%) | ||||
| VSD (25%) | ||||
| Others (50%) | ||||
| Lp/Lp | AR | DORV (100%) | Mouse | 80 |
| Double AoA (66%) | ||||
| Right AoA (33%) | ||||
| Cx40 (−/−) | AR | DORV (17%) | Mouse | 87 |
| Endocardial cushion defects (17%) | ||||
| AP-2alpha (AP-2α −/−) | AR | DORV (87%) | Mouse | 88 |
| Truncus arteriosus (13%) | ||||
| Gata4 (Gata4 ki/ki) transgenic | AR | DORV (100%) | Mouse | 89 |
| Gata4 (H/H) | AR | DORV | Mouse | 90 |
| CAVC | ||||
| Ventricular myocardium hypo | ||||
| ES(#21)-11 | Chimeric chromosome 21 | DORV (29%) | Mouse | 191 |
| Trap∝α/Ssr1 | AR | DORV | Mouse | 92 |
| Ptdsr | AR | DORV | Mouse | 93 |
| VSD | ||||
| PA: hypo | ||||
| Thymus: hypo | ||||
| AP-2alpha | AR | DORV (majority) | Mouse | 88 |
| Sox11 | AR | DORV | Mouse | 94 |
| VSD | ||||
| Spectrum of outflow tract malformations | ||||
| Sox4/NF-Atc | Multigene | DORV | Mouse | 95 |
| Truncus arteriosus | ||||
| TOF | ||||
| Presenilin 1 (PS1) | AR | DORV | Mouse | 96 |
| VSD | ||||
| PS | ||||
| Fgf12-IIIb | AR | DORV (minority) | Mouse | 97 |
| Vang-like 2 (Wnt signalling pathway) | AR | DORV (remodelling of cardiac outflow tract) | Mouse | 81 |
| Dishevelled 2 (Dvl2) (Wnt signalling pathway) | AR | DORV (38%) | Mouse | 68 |
| TGA | ||||
| Truncus arteriosus | ||||
| Ara9 | AR | DORV (57%) | Mouse | 192 |
AoA, aortic arch; AR, autosomal recessive; AV, atrioventricular; ASD, atrial septal defect; CAVC, complete atrioventricular canal; DILV, double inlet left ventricle; DORV, double outlet right ventricle; MV, mitral valve; PA, pulmonary atresia; PS, pulmonary stenosis; TGA, transposition of the great arteries; TOF, tetralogy of Fallot; TV, tricuspid valve; VSD, ventricular septal defect.