Table 19.
Non-exhaustive list of high confident genes for non-syndromic human CHD
| Familial non-syndromic CHD | Gene | Inheritance |
|---|---|---|
| Atrial septal defect | GATA4 | AD |
| Atrial septal defect (with or without atrioventricular conduction block) | NKX2.5 | AD |
| TBX5 | AD* | |
| Atrioventricular septal defect | CRELD1 | AD |
| NR2F2 | AD | |
| Supravalvar aortic stenosis | ELN | AD |
| Aortic valve stenosis | NOTCH1 | AD |
| TAB2 | AD** | |
| Tetralogy of Fallot | NOTCH1 | AD |
| FLT4 | AD | |
| Patent ductus arteriosus | TFAP2B | AD*** |
| Heterotaxy | ACVR2B | AD |
| CFC1 | AD | |
| NODAL | AD | |
| CCDC11 | AR | |
| CFAP53 | AR | |
| PKD1L1 | AR | |
| ZIC3 | XL |
Pathogenic variants in TBX5, TAB2, and TFAP2B can cause non-syndromic CHD, or may be associated with *hand anomalies, **connective tissue disorder, or ***facial dysmorphism.