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.
How to cite this resource:
- Yang A, Alankarage D, Cuny H, Ip EKK, Almog M, Lu J, Das D, Enriquez A, Szot JO, Humphreys DT, Blue GM, Ho JWK,Winlaw DS, Dunwoodie SL, Giannoulatou E, CHDgene: a curated database for congenital heart disease genes, Circulation: Genomic and Precision Medicine 2022
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| Gene | CHD classification | Extra cardiac phenotype | Inheritance mode | Ranking | Supporting References |
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| 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 | 2 | ||
| 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 | 2 | ||
| 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 | ||
| DNAH5 | ASD AVSD and variants Heterotaxy | AR CH | 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 | ||
| KDM2B | ASD VSD | AD DN | 1 | ||
| KDM6A | ASD VSD Obstructive lesions Functional single ventricle | XLD | 3 | ||
| KDR | Malformation of outflow tracts | AD AR | 2 | ||
| 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 | 3 | ||
| LTBP2 | ASD with minor abnormalities Malformation of outflow tracts Obstructive lesions | AR | 1 | ||
| LZTR1 | ASD with minor abnormalities VSD with minor abnormalities Obstructive lesions | AD AR | 3 | ||
| 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 | ||
| PRKACB | AVSD and variants | AD | 2 | ||
| 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 | ||
| SETD5 | AVSD and variants ASD VSD | AD DN | 1 | ||
| 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 | ||
| THOC6 | ASD with minor abnormalities VSD with minor abnormalities | AR | 1 | ||
| TLL1 | ASD with minor abnormalities VSD with minor abnormalities | AD | 2 | ||
| TMEM260 | ASD with minor abnormalities VSD with minor abnormalities Obstructive lesions Malformation of outflow tracts | AR | 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: 2024-12-05