CHD Genes | MIM | Disorder | Inheritance |
CHD7b | 214800 | CHARGE syndromeb | AD |
N/A | Isolated CHD52 | ||
ELNa | 185500 | Supravalvular aortic stenosis | AD |
GATA4a | 607941 | Atrial septal defect 2 | AD |
614430 | Atrioventricular septal defect 4 | ||
187500 | Tetralogy of Fallot | ||
614429 | Ventricular septal defect 1 | ||
GATA6b | 614475 | Atrial septal defect 9 | AD |
614474 | Atrioventricular septal defect 5 | ||
600001 | Pancreatic agenesis and congenital heart defectsb | ||
217095 | Persistent truncus arteriosus | ||
187500 | Tetralogy of Fallot | ||
GDF1b | 208530 | Right atrial isomerismb | AR |
613854 | Congenital heart defects, multiple types, 6 | AD | |
JAG1b | 118450 | Alagille syndromeb | AD |
187500 | Tetralogy of Fallot66 | ||
NKX2-5a | 108900 | Atrial septal defect 7 | AD |
217095 | Conotruncal heart malformations, variable | ||
614435 | Hypoplastic left heart syndrome 2 | ||
187500 | Tetralogy of Fallot | ||
614432 | Ventricular septal defect 3 | ||
NKX2-6a | 217095 | Conotruncal heart malformations | AR |
217095 | Persistent truncus arteriosus | ||
NOTCH1b | 109730 | Aortic valve disease 1 | AD |
616028 | Adams-Oliver syndrome 5b | ||
NR2F2a | 615779 | Congenital heart defects, multiple types, 4 | AD |
TBX1b | 188400 | DiGeorge syndromeb | AD |
192430 | Velocardiofacial syndromeb | ||
217095 | Conotruncal anomaly face syndromeb | ||
187500 | Tetralogy of Fallot | ||
TBX5b | 142900 | Holt-Oram syndromeb | AD |
N/A | Atrioventricular septal defect, Atrial septal defect, Ventricular septal defect61,62,67 | ||
ZIC3b | 306955 | Congenital heart defects, nonsyndromic, 1, X-linked | XLR |
306955 | Heterotaxy, visceral, 1, X-linkedb | ||
314390 | VACTERL association, X-linkedb |
Table lists 13 genes common across targeted CHD panels offered by four different laboratories included in the Genetic Testing Registry, and available for prenatal testing. An additional 32 CHD genes common across panels from 3 laboratories, and 35 genes common across 2 laboratories are available for testing but not included in this table.
Note: AD: autosomal dominant; AR: autosomal recessive; XLR:X-linked recessive.
↵a Gene associated with NS-CHD (non-syndromic congenital heart disease) only.
↵b Gene associated with NS-CHD as well as extracardiac/syndromic presentation or heterotaxy.