| Study |
CHD type |
Sample size |
Suspected inheritance |
Analysis type |
Likely causal variant identified |
Novel/Known variant |
Segregation with disease |
In silico predictions |
| Arrington et al. |
ASD, VSD, Coarc |
2 |
Dominant |
ES |
MYH6
(p.Ala290Pro) |
Known |
No |
Damaging |
| Liu et al. |
ASD |
1 |
Dominant |
ES and CHD gene filter |
TBX20
(p.Asp176Asn) |
Novel |
Yes |
Damaging |
| Ta-Shma et al. |
TA |
1 |
Recessive |
ES and homozygosity
mapping |
PLXND1
(p.Arg1299Cys) |
Novel |
Yes* |
Damaging |
| Greenwa et al. |
ASD |
2 |
Dominant |
ES |
ACTC1
(p.Met178Leu) |
Novel |
Yes |
Damaging and Benign |
| Martin et al. |
BAV, VSD, AVSD |
17 |
Dominant |
ES |
No |
n/a |
No |
n/a |
| Tariq et al. |
L-TGA, heterotaxy |
1 |
Dominant |
ES andhomozygosity
mapping |
SHROOM3
(p.Gly60Val) |
Novel |
Unknown# |
Damaging |
*No other affected individuals available for testing; # Only proband tested.
ASD: Atrial Septal Defect; AVSD: Atrioventricular Septal Defect; BAV: Bicuspid Aortic Valve; CHD: Congenital Heart Disease; Coarc: Coarctation of the Aorta; ES: Exome
Sequencing; L-TGA: Congenitally Corrected Transposition of the Great Arteries; n/a: not applicable; TA: Truncus Arteriosus; VSD: Ventricular Septal Defect |
