The CHDgene website is an online resource created for clinicians and researchers who are interested in genetics of CHD.

Three tiers of gene lists are included: the high-confidence CHD gene list, emerging CHD genes, and novel CHD genes. The original high confidence CHD genes list was published by Szot et al., 2018, followed by an updated version in Alankarage et al., 2018. These genes have reproducibly been shown to cause CHD in humans. Genes that belong to a second tier classification with more tenuous links to CHD are also presented, and represent emerging CHD genes. Third tier of genes that may not have human evidence, but animal model evidence are presented as novel CHD genes.

The primary purpose of this website is to provide a tool for the rapid identification of clinically actionable variants according to ACMG guidelines (Richards et al., 2015) and thereby facilitate genetic diagnosis of CHD. The secondary purpose is to facilitate data-sharing of variants in emerging and novel CHD genes, to permit reclassification of VUS and to expand the current knowledge of causes of human CHD.

Gene CHD classification Extra cardiac phenotype Inheritance mode Ranking Supporting References
ACTC1 Septal defects AD 3
ACVR1 Septal defects Malformation of outflow tracts AVSD and variants Septal defects with minor anomalies AD AR 2
ACVR2B Septal defects Malformation of outflow tracts Other Septal defects with minor anomalies Functional single ventricle AVSD and variants AD 2
ADAMTS10 Malformation of outflow tracts Septal defects Obstructive lesions Septal defects with minor anomalies AR 1
ANKRD11 Malformation of outflow tracts Septal defects AVSD and variants Obstructive lesions AD 3
ARID1A Malformation of outflow tracts Septal defects Obstructive lesions AD 1
ARID1B Malformation of outflow tracts Septal defects AVSD and variants Other AD 4
B3GAT3 Septal defects Malformation of outflow tracts Septal defects with minor anomalies AR 4
BCOR Septal defects Obstructive lesions Malformation of outflow tracts AVSD and variants Septal defects with minor anomalies Other XLD 2
BMPR2 Obstructive lesions Septal defects Other Malformation of outflow tracts AVSD and variants AD DN 3
BRAF Malformation of outflow tracts Septal defects Septal defects with minor anomalies Obstructive lesions AD 5
CDK13 Septal defects Malformation of outflow tracts AD 2
CFC1 Malformation of outflow tracts Functional single ventricle AVSD and variants AD 4
CHD4 Septal defects Malformation of outflow tracts AD 1
CHD7 Septal defects Other Septal defects with minor anomalies AD 3
CITED2 Septal defects Septal defects with minor anomalies Other AD 3
CREBBP Septal defects Malformation of outflow tracts Obstructive lesions Other AD 6
CRELD1 AVSD and variants Other AD 3
DLL4 Septal defects Malformation of outflow tracts AD DN 2
DOCK6 Septal defects Other AR 2
EFTUD2 Septal defects Other AD 2
EHMT1 Septal defects Malformation of outflow tracts AD 2
ELN Malformation of outflow tracts Septal defects Obstructive lesions AD 3
EVC Functional single ventricle Septal defects Malformation of outflow tracts AVSD and variants Septal defects with minor anomalies Other AD AR 4
EVC2 Functional single ventricle Septal defects Malformation of outflow tracts AVSD and variants Septal defects with minor anomalies AD AR 4
FBN1 Malformation of outflow tracts Obstructive lesions AD 2
FGFR2 Septal defects Malformation of outflow tracts Obstructive lesions Septal defects with minor anomalies Functional single ventricle Other AD DN 3
FLNA Septal defects Functional single ventricle Malformation of outflow tracts Obstructive lesions Septal defects with minor anomalies XLD XLR 3
FLT4 Malformation of outflow tracts AD DN 2
FOXC1 Malformation of outflow tracts Septal defects AD 4
FOXC2 Malformation of outflow tracts Septal defects Other AD 2
FOXH1 Malformation of outflow tracts AD 2
GATA4 Septal defects AVSD and variants Malformation of outflow tracts Functional single ventricle Other Septal defects with minor anomalies AD 5
GATA5 Malformation of outflow tracts Septal defects Septal defects with minor anomalies AD AR 4
GATA6 Malformation of outflow tracts Septal defects Obstructive lesions AVSD and variants Septal defects with minor anomalies AD 6
GDF1 Malformation of outflow tracts Functional single ventricle Obstructive lesions Other AD AR 1
GJA1 Functional single ventricle Septal defects Malformation of outflow tracts Obstructive lesions AD 2
GPC3 Septal defects Malformation of outflow tracts Obstructive lesions Other XLR 1
HAND1 Functional single ventricle Septal defects Unknown 3
HAND2 Malformation of outflow tracts Septal defects Septal defects with minor anomalies AD DN 3
HRAS Malformation of outflow tracts Septal defects Septal defects with minor anomalies Obstructive lesions AD 3
INVS Septal defects Malformation of outflow tracts Septal defects with minor anomalies Other AR 2
JAG1 Malformation of outflow tracts Septal defects Septal defects with minor anomalies AD 2
KANSL1 Septal defects Malformation of outflow tracts Other AD 3
KAT6A Septal defects Malformation of outflow tracts Other Septal defects with minor anomalies AD 2
KAT6B Septal defects Other AD 4
KDM6A Septal defects Malformation of outflow tracts Functional single ventricle XLD 3
KMT2A Septal defects Malformation of outflow tracts Other AD 2
KMT2D Septal defects Malformation of outflow tracts Obstructive lesions AD 4
KRAS Septal defects Malformation of outflow tracts Septal defects with minor anomalies Obstructive lesions AD DN 3
MAP2K1 Malformation of outflow tracts Septal defects DN 3
MAP2K2 Malformation of outflow tracts Septal defects Obstructive lesions AD DN 3
MED13L Malformation of outflow tracts Septal defects Other AD 4
MEIS2 Septal defects Septal defects with minor anomalies Malformation of outflow tracts Obstructive lesions Other AD DN 4
MESP1 Malformation of outflow tracts Septal defects AD DN 2
MYBPC3 Septal defects Septal defects with minor anomalies Other AR 3
MYH11 Other AD 3
MYH6 Septal defects Malformation of outflow tracts AD 3
MYH7 Septal defects Obstructive lesions Septal defects with minor anomalies Other AD 3
NF1 Septal defects Malformation of outflow tracts Obstructive lesions AD 3
NIPBL Septal defects Malformation of outflow tracts Septal defects with minor anomalies AD 4
NKX2-5 Malformation of outflow tracts Functional single ventricle Septal defects Septal defects with minor anomalies Other AD 1
NKX2-6 Malformation of outflow tracts Septal defects AD AR 3
NODAL Malformation of outflow tracts Functional single ventricle Septal defects AVSD and variants Other AD 1
NOTCH1 Malformation of outflow tracts Functional single ventricle Septal defects Septal defects with minor anomalies Obstructive lesions AD 3
NOTCH2 Malformation of outflow tracts Septal defects Obstructive lesions Septal defects with minor anomalies Other AD 3
NPHP3 Malformation of outflow tracts Obstructive lesions Septal defects Other AR 3
NPHP4 AVSD and variants Malformation of outflow tracts AR 1
NR2F2 AVSD and variants Septal defects AD 2
NRAS Malformation of outflow tracts Obstructive lesions AD 2
NSD1 Septal defects Malformation of outflow tracts Obstructive lesions Other AD 1
PBX1 Malformation of outflow tracts Septal defects Septal defects with minor anomalies Obstructive lesions Other AD DN 3
PITX2 Septal defects Malformation of outflow tracts AD 5
PRDM6 Obstructive lesions AD 1
PRKD1 AVSD and variants Malformation of outflow tracts AD 2
PTPN11 Malformation of outflow tracts Septal defects Obstructive lesions AD 3
RAB23 Septal defects Malformation of outflow tracts Obstructive lesions AR 1
RAD21 Malformation of outflow tracts Other AR 2
RAF1 Septal defects Malformation of outflow tracts Other AD 2
RIT1 Septal defects Malformation of outflow tracts Obstructive lesions AD 3
SALL1 Septal defects Malformation of outflow tracts AD 3
SALL4 Malformation of outflow tracts Septal defects Obstructive lesions AD DN 3
SF3B4 AVSD and variants Obstructive lesions Malformation of outflow tracts Septal defects AD DN 3
SHOC2 Malformation of outflow tracts Septal defects Obstructive lesions AD 2
SMAD3 Functional single ventricle Malformation of outflow tracts Septal defects Obstructive lesions AD 3
SMAD4 Malformation of outflow tracts Septal defects Obstructive lesions AD DN 2
SMAD6 Malformation of outflow tracts AD 1
SMARCA4 Malformation of outflow tracts Obstructive lesions Septal defects Functional single ventricle AD DN 2
SMARCB1 Septal defects Malformation of outflow tracts Other AD DN 2
SMARCE1 Septal defects Malformation of outflow tracts Obstructive lesions Other AD DN 3
SMC1A Septal defects Malformation of outflow tracts XLD 4
SMC3 Malformation of outflow tracts Septal defects Obstructive lesions DN 2
SON Septal defects Malformation of outflow tracts Obstructive lesions DN 3
SOS1 Malformation of outflow tracts Septal defects AD 4
STRA6 Septal defects Malformation of outflow tracts Functional single ventricle Obstructive lesions Other AR CH 4
TAB2 Septal defects Malformation of outflow tracts Obstructive lesions Other AD DN 3
TBX1 Septal defects Malformation of outflow tracts AD 4
TBX20 Septal defects Septal defects with minor anomalies Malformation of outflow tracts Functional single ventricle Obstructive lesions Other AD 4
TBX5 Septal defects AVSD and variants AD 2
TFAP2B Other AD 4
TGFBR1 Malformation of outflow tracts Obstructive lesions Septal defects Other AD 2
TGFBR2 Malformation of outflow tracts Obstructive lesions Septal defects Other AD 2
TLL1 Septal defects Other AD 2
UBR1 Septal defects Obstructive lesions Malformation of outflow tracts AR CH 3
ZEB2 Septal defects Obstructive lesions Malformation of outflow tracts Septal defects with minor anomalies Other AD DN 3
ZFPM2 Malformation of outflow tracts AD DN 2
ZIC3 Septal defects Malformation of outflow tracts Septal defects with minor anomalies Functional single ventricle XLR 5

Last updated: 2019-03-13