The CHDgene website is an online resource created for clinicians and researchers who are interested in the genetics of Congenital Heart Disease (CHD).

CHDgene currently contains a list of high-confidence CHD genes. Variants in these genes have reproducibly been shown to cause CHD in humans. Initial versions of this list were utilised by Szot et al., 2018 and Alankarage et al., 2018. 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.

Gene CHD classification Extra cardiac phenotype Inheritance mode Ranking Supporting References
ABL1 ASD VSD AD DN 2
ACTC1 ASD VSD AD 3
ACVR1 ASD AVSD and variants Malformation of outflow tracts AD AR 2
ACVR2B ASD with minor abnormalities VSD with minor abnormalities AVSD and variants Obstructive lesions Malformation of outflow tracts Heterotaxy Other AD 2
ADAMTS10 VSD Obstructive lesions AR 1
AFF4 VSD with minor abnormalities AD DN 2
ANKRD11 ASD VSD AVSD and variants Obstructive lesions AD 3
ARID1A ASD VSD Obstructive lesions AD 1
ARID1B ASD with minor abnormalities AVSD and variants AD 4
B3GAT3 ASD with minor abnormalities VSD with minor abnormalities AR 4
BCOR ASD with minor abnormalities VSD with minor abnormalities Obstructive lesions Malformation of outflow tracts Heterotaxy XLD 2
BMPR2 ASD with minor abnormalities VSD with minor abnormalities AVSD and variants Malformation of outflow tracts AD DN 3
BRAF ASD with minor abnormalities Obstructive lesions AD 5
CDK13 ASD VSD Obstructive lesions AD 2
CFC1 AVSD and variants Obstructive lesions Malformation of outflow tracts Heterotaxy AD 4
CHD4 ASD VSD Obstructive lesions Malformation of outflow tracts AD 1
CHD7 ASD with minor abnormalities AD 3
CHST14 ASD Obstructive lesions AR 3
CITED2 ASD VSD AD 3
CREBBP ASD with minor abnormalities VSD with minor abnormalities Obstructive lesions AD 6
CRELD1 AVSD and variants Heterotaxy AD 3
DLL4 VSD Obstructive lesions Malformation of outflow tracts AD DN 2
DNAH11 ASD AVSD and variants Obstructive lesions Malformation of outflow tracts Functional single ventricle AR 3
DOCK6 VSD with minor abnormalities AR 2
EFTUD2 ASD with minor abnormalities VSD with minor abnormalities Other AD 2
EHMT1 VSD with minor abnormalities AD 2
ELN ASD Obstructive lesions AD 3
EP300 VSD with minor abnormalities AD DN 4
ESCO2 VSD Obstructive lesions AR 2
EVC ASD VSD AVSD and variants Obstructive lesions Malformation of outflow tracts AD AR 4
EVC2 ASD VSD AVSD and variants Obstructive lesions Malformation of outflow tracts AD AR 4
FBN1 Obstructive lesions AD 2
FGFR2 ASD with minor abnormalities VSD with minor abnormalities Obstructive lesions Malformation of outflow tracts Functional single ventricle AD DN 3
FLNA ASD with minor abnormalities AVSD and variants Obstructive lesions Malformation of outflow tracts Functional single ventricle XLD XLR 3
FLT4 Malformation of outflow tracts AD DN 2
FOXC1 ASD Malformation of outflow tracts AD 4
FOXC2 VSD with minor abnormalities Malformation of outflow tracts AD 2
FOXH1 Malformation of outflow tracts Heterotaxy AD 2
FOXP1 ASD with minor abnormalities AVSD and variants Obstructive lesions Functional single ventricle AD DN 2
GATA4 ASD with minor abnormalities VSD AVSD and variants Obstructive lesions Malformation of outflow tracts Functional single ventricle AD 5
GATA5 ASD VSD with minor abnormalities Malformation of outflow tracts AD AR 4
GATA6 ASD with minor abnormalities AVSD and variants Obstructive lesions Malformation of outflow tracts AD 6
GDF1 VSD AVSD and variants Obstructive lesions Malformation of outflow tracts Heterotaxy Other AD AR 1
GJA1 VSD Obstructive lesions Functional single ventricle AD 2
GLI3 ASD VSD AVSD and variants Obstructive lesions Malformation of outflow tracts AD DN 2
GPC3 ASD with minor abnormalities VSD with minor abnormalities Obstructive lesions XLR 1
HAAO ASD with minor abnormalities Functional single ventricle Obstructive lesions AR 1
HAND1 VSD Functional single ventricle AD 3
HAND2 VSD Obstructive lesions Malformation of outflow tracts AD DN 3
HDAC8 ASD VSD XLD 4
HNRNPK ASD VSD with minor abnormalities Obstructive lesions Malformation of outflow tracts AD DN 4
HRAS ASD with minor abnormalities Obstructive lesions AD 3
INVS VSD with minor abnormalities Obstructive lesions AR 2
JAG1 VSD Obstructive lesions Malformation of outflow tracts AD 2
KANSL1 ASD with minor abnormalities VSD with minor abnormalities Obstructive lesions AD 3
KAT6A ASD with minor abnormalities VSD with minor abnormalities AD 2
KAT6B ASD with minor abnormalities VSD with minor abnormalities AD 4
KDM6A ASD VSD Obstructive lesions Functional single ventricle XLD 3
KMT2A ASD with minor abnormalities AD 2
KMT2D ASD with minor abnormalities VSD with minor abnormalities Obstructive lesions AD 4
KRAS ASD VSD Obstructive lesions AD DN 3
KYNU ASD with minor abnormalities VSD with minor abnormalities Malformation of outflow tracts Functional single ventricle Other AR 2
MAP2K1 ASD Obstructive lesions DN 3
MAP2K2 ASD with minor abnormalities Obstructive lesions AD DN 3
MAP3K7 VSD with minor abnormalities Obstructive lesions AD DN 3
MED12 ASD with minor abnormalities VSD with minor abnormalities Obstructive lesions XLR 3
MED13L VSD with minor abnormalities Malformation of outflow tracts AD 4
MEIS2 ASD VSD Obstructive lesions Malformation of outflow tracts Functional single ventricle Other AD DN 4
MESP1 VSD Malformation of outflow tracts AD DN 2
MYBPC3 ASD with minor abnormalities VSD with minor abnormalities AR 3
MYH11 Other AD 3
MYH6 ASD with minor abnormalities VSD with minor abnormalities Obstructive lesions Malformation of outflow tracts AD 3
MYH7 ASD Other AD 3
NF1 ASD VSD Obstructive lesions AD 3
NIPBL ASD VSD AD 4
NKX2-5 ASD VSD AVSD and variants Obstructive lesions Malformation of outflow tracts Functional single ventricle Heterotaxy Other AD 1
NKX2-6 VSD Malformation of outflow tracts AD AR 3
NODAL ASD with minor abnormalities VSD with minor abnormalities AVSD and variants Obstructive lesions Malformation of outflow tracts Functional single ventricle Heterotaxy Other AD 1
NONO ASD with minor abnormalities VSD with minor abnormalities Other XLR 3
NOTCH1 VSD with minor abnormalities Obstructive lesions Malformation of outflow tracts Functional single ventricle AD 3
NOTCH2 ASD with minor abnormalities Obstructive lesions Malformation of outflow tracts AD 3
NPHP3 ASD with minor abnormalities Obstructive lesions AR 3
NPHP4 AVSD and variants Malformation of outflow tracts Heterotaxy AR 1
NR2F2 ASD AVSD and variants AD 2
NRAS Obstructive lesions AD 2
NSD1 ASD with minor abnormalities VSD with minor abnormalities Obstructive lesions Other AD 1
NUP188 VSD with minor abnormalities AR 2
PBX1 ASD with minor abnormalities VSD with minor abnormalities Malformation of outflow tracts AD DN 3
PIGL VSD Obstructive lesions Malformation of outflow tracts AR 2
PIGV ASD VSD with minor abnormalities AR 2
PITX2 ASD VSD Malformation of outflow tracts AD 5
PKD1L1 VSD Obstructive lesions Malformation of outflow tracts Functional single ventricle Heterotaxy Other AR 4
PRDM6 Other AD 1
PRKD1 AVSD and variants Obstructive lesions Malformation of outflow tracts AD 2
PTPN11 ASD Obstructive lesions AD 3
RAB23 ASD with minor abnormalities Malformation of outflow tracts AR 1
RAD21 VSD with minor abnormalities Malformation of outflow tracts AR 2
RAF1 ASD with minor abnormalities VSD with minor abnormalities Obstructive lesions Malformation of outflow tracts AD 2
RBFOX2 Functional single ventricle AD DN 2
RERE ASD with minor abnormalities VSD with minor abnormalities AD DN 2
RIT1 ASD with minor abnormalities VSD with minor abnormalities Obstructive lesions AD 3
SALL1 ASD VSD Obstructive lesions Malformation of outflow tracts AD 3
SALL4 VSD with minor abnormalities Malformation of outflow tracts AD DN 3
SF3B4 VSD with minor abnormalities AVSD and variants Malformation of outflow tracts AD DN 3
SHOC2 ASD VSD Obstructive lesions AD 2
SMAD2 ASD with minor abnormalities VSD with minor abnormalities AVSD and variants Obstructive lesions Malformation of outflow tracts Heterotaxy Other AD DN 2
SMAD3 VSD with minor abnormalities Obstructive lesions Functional single ventricle AD 3
SMAD4 ASD with minor abnormalities VSD with minor abnormalities Obstructive lesions AD DN 2
SMAD6 Obstructive lesions AD 1
SMARCA4 ASD with minor abnormalities VSD with minor abnormalities Obstructive lesions Functional single ventricle AD DN 2
SMARCB1 ASD VSD Obstructive lesions Heterotaxy AD DN 2
SMARCE1 ASD with minor abnormalities Obstructive lesions Heterotaxy Other AD DN 3
SMC1A ASD VSD Obstructive lesions XLD 4
SMC3 ASD with minor abnormalities VSD with minor abnormalities Obstructive lesions Malformation of outflow tracts DN 2
SMG9 VSD with minor abnormalities AR 2
SON ASD with minor abnormalities VSD with minor abnormalities DN 3
SOS1 ASD VSD Obstructive lesions AD 4
STRA6 ASD with minor abnormalities VSD with minor abnormalities Obstructive lesions Malformation of outflow tracts Functional single ventricle AR CH 4
TAB2 ASD with minor abnormalities VSD with minor abnormalities Obstructive lesions Malformation of outflow tracts AD DN 3
TBX1 VSD Obstructive lesions Malformation of outflow tracts AD 4
TBX20 ASD with minor abnormalities VSD with minor abnormalities Obstructive lesions Malformation of outflow tracts Functional single ventricle AD 4
TBX5 ASD VSD AVSD and variants AD 2
TFAP2B Malformation of outflow tracts Other AD 4
TGFBR1 ASD with minor abnormalities AD 2
TGFBR2 ASD with minor abnormalities AD 2
TLL1 ASD with minor abnormalities VSD with minor abnormalities AD 2
TRAF7 ASD with minor abnormalities VSD with minor abnormalities Obstructive lesions Functional single ventricle AD DN 2
TXNL4A ASD with minor abnormalities VSD with minor abnormalities AR CH 2
UBR1 ASD with minor abnormalities VSD with minor abnormalities Malformation of outflow tracts AR CH 3
WASHC5 ASD with minor abnormalities VSD with minor abnormalities AR 2
ZEB2 ASD with minor abnormalities VSD with minor abnormalities Obstructive lesions AD DN 3
ZFPM2 Malformation of outflow tracts AD DN 2
ZIC3 ASD with minor abnormalities VSD with minor abnormalities AVSD and variants Obstructive lesions Malformation of outflow tracts Functional single ventricle Heterotaxy XLR 5

Last updated: 2021-05-04