TABLE 2.
Genes assessed in the congenital heart disease comprehensive panel
| Gene name | Genomic locus | Function | Disease association |
|---|---|---|---|
| CHD7 | 8q12.2 | Helicase | CHARGE disorder (OMIM: #214800) |
| ELN | 7q11.23 | Extracellular matrix protein | Supravalvar aortic stenosis (OMIM: #185500) |
| GATA4 | 8p23.1 | Cardiac transcription factor | ASD 2 (OMIM: #607941) AVSD4 (OMIM: #614430) TOF (OMIM: #187500) VSD1 (OMIM: #614429) |
| GATA6 | 18q11.2 | Cardiac transcription factor | ASD 5 (OMIM: #614474) ASD 9 (OMIM: #614475) Conotruncal heart malformations (OMIM: #217095) TOF (OMIM: #187500) |
| GDF1 | 19p13.11 | Signalling protein | Congenital heart defects 6 (OMIM: #613854) Right atrial isomerism (OMIM: #208530) |
| JAG1 | 20p12.2 | Signalling ligand | Alagille syndrome (OMIM: 188450) TOF (OMIM: #187500) |
| NKX2-5 | 5q35.1 | Cardiac transcription factor | ASD 7 (OMIM: #108900) Conotruncal heart malformations (OMIM: #217095) HLHS2 (OMIM: #614435) TOF (OMIM: #187500) VSD3 (OMIM: #614432) |
| NKX2-6 | 8p21.2 | Cardiac transcription factor | Conotruncal heart malformations (OMIM: #217015) |
| NOTCH1 | 9q34.3 | Signalling receptor | Aortic valve disease (OMIM: #109730) |
| NOTCH2 | 1p12 | Signalling receptor | Alagille syndrome (OMIM: #610205) |
| NR2F2 | 15q26.2 | Nuclear receptor | Congenital heart defects 4 (OMIM: #615779) |
| TAB2 | 6q25.1 | MAP kinase | Congenital heart defects 2 (OMIM: #614980) |
| TBX1 | 22q11.21 | Cardiac transcription factor | 22q deletion syndrome (OMIM: #192430, #188400) Conotruncal heart malformations (OMIM: #217095) TOF (OMIM: #187500) |
| TBX5 | 12q24.21 | Cardiac transcription factor | Holt-Oram syndrome (OMIM: #142900) |
| TBX20 | 7p14.2 | Cardiac transcription factor (T-box family) | ASD4 (OMIM: #611363) |
Online Mendelian Inheritance in Man (OMIM) database (https://www.omim.org) #xxxxxx points to specific articles in OMIM with detailed information for each genetic condition.
ASD, atrial septal defect; AVSD, atrioventricular septal defects; CHARGE, coloboma, heart defects, atresia choanae, growth retardation, genital and ear abnormalities; HLHS, hypoplastic left heart syndrome; MAP, mitogen-activated protein; NOTCH1, neurogenic locus notch homolog protein 1; TOF, tetralogy of Fallot; VSD, ventricular septal defect.