Table 1:
Commonly used genes in prenatal testing panels of congenital heart disorders.
| CHD Genes | Disorder | Inheritance Pattern |
|---|---|---|
| CHD7b | CHARGE syndromeb | AD |
| Isolated CHD52 | ||
| ELNa | Supravalvular aortic stenosis | AD |
| GATA4a | Atrial septal defect 2 | AD |
| Atrioventricular septal defect 4 | ||
| Tetralogy of Fallot | ||
| Ventricular septal defect 1 | ||
| GATA6b | Atrial septal defect 9 | AD |
| Atrioventricular septal defect 5 | ||
| Pancreatic agenesis and congenital heart defectsb | ||
| Persistent truncus arteriosus | ||
| Tetralogy of Fallot | ||
| GDF1b | Right atrial isomerismb | AR |
| Congenital heart defects, multiple types, 6 | AD | |
| JAG1b | Alagille syndromeb | AD |
| Tetralogy of Fallot | ||
| NKX2–5a | Atrial septal defect 7 | AD |
| Conotruncal heart malformations, variable | ||
| Hypoplastic left heart syndrome 2 | ||
| Tetralogy of Fallot | ||
| Ventricular septal defect 3 | ||
| NKX2–6a | Conotruncal heart malformations | AR |
| Persistent truncus arteriosus | ||
| NOTCH1b | Aortic valve disease 1 | AD |
| Adams-Oliver syndrome 5b | ||
| NR2F2a | Congenital heart defects, multiple types, 4 | AD |
| TBX1b | DiGeorge syndromeb | AD |
| Velocardiofacial syndromeb | ||
| Conotruncal anomaly face syndromeb | ||
| Tetralogy of Fallot | ||
| TBX5b | Holt-Oram syndromeb | AD |
| Atrioventricular septal defect, Atrial septal defect, Ventricular septal defect | ||
| ZIC3b | Congenital heart defects, nonsyndromic, 1, X-linked | XLR |
| Heterotaxy, visceral, 1, X-linkedb | ||
| VACTERL association, X-linkedb |
AD, autosomal dominant; AR, autosomal recessive; XLR, X-linked recessive; NS-CHD non-syndromic congenital heart disease. Adapted from Ref. [80]. Copyright, The Authors, 2022. Published by KeAi Publishing. Distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/).
a
Gene associated with NS-CHD only.
b
Gene associated with NS-CHD and extracardiac presentation.