Table 7.
List of genes with potential relevance for TOF and HLHS.
| Gene | Chromosome | OMIM | Cellular Function | Related Human Diseases and Known Cardiac Phenotypes | Reference |
|---|---|---|---|---|---|
| Tetrralogy of Fallot | |||||
| BARX1 | 9q22.32 | 603260 | transcription factor | [40] | |
| FOXK1 | 7p22.1 | no entry | transcription factor | [40] | |
| HAND2 | 4q34.1 | 602407 | transcription factor | [50] | |
| CNOT6 | 5q35.3 | 608951 | transcriptional regulation | [50] | |
| A2BP1 | 16p13.3 | 605104 | transcriptional regulation | [76, 81] | |
| TCEB3 | 1p36.1 | 600786 | transcriptional regulation | [40] | |
| PTPN11 | 12q24 | 176876 | modulation of Ras/MAPK signaling | Noonan syndrome, Leopard syndrome | [33, 34] |
| GPC5 | 13q32 | 602446 | modulation of Wnt, Hedgehog, FGF, and BMP signaling | acquired nephrotic syndrome, Hurler syndrome, Hunter syndrome | [33] |
| NRP1 | 10p12 | 602069 | modulation of VEGF signaling | Kallmann syndrome | [33] |
| SEMA3E | 7q21.11 | 608166 | modulation of NOTCH pathway | CHARGE syndrome | [48] |
| BCL9 | 1q21.2 | 602597 | modulation of Wnt signaling | B cell malignancies | [49] |
| TP53BP2 | 1q41 | 602143 | cell communication | [40] | |
| WBSCR16 | 7q11.23 | no entry | cell communication | Williams Beuren syndrome | [40] |
| SNIP | 17q12 | 610786 | cell communication | [76] | |
| BRDG1 | 4q13.2 | 604298 | cell communication | [76] | |
| VEGF | 6p21.1 | 192240 | cell communication | Susceptibility to atherosclerosis and diabetic retinopathy | [81, 82] |
| NPPA | 1p36.21 | 108780 | cell communication | atrial fibrillation, atrial standstill | [81] |
| NPPB | 1p36.22 | 600295 | cell communication | [81] | |
| SST | 3q27.3 | 182450 | cell communication | [84] | |
| PPBP | 4q13,3 | 121010 | cell communication | [84] | |
| NRGN | 11q24.2 | 602350 | cell communication | [84] | |
| MYOM2 | 8p23.3 | 603509 | cell growth and maintenance | [40] | |
| EDIL3 | 5q14 | 606018 | cell growth and maintenance | Ankylosing spondylitis | [50] |
| TEKT2 | 1p34.3 | 608953 | cell growth and/or maintenance | [76] | |
| MYL2 | 12q24.11 | 160781 | cell growth and/or maintenance | familial hypertrophic cardiomyopathy | [84] |
| NEFH | 22q12.2 | 162230 | cell growth and/or maintenance | amyotrophic lateral sclerosis | [84] |
| KRT6A | 12q13.3 | 148041 | cell growth and/or maintenance | Pachyonychia congenita | [84] |
| KRT7 | 12q13.3 | 148059 | cell growth and/or maintenance | [84] | |
| BCCIP | 10q26.1 | 611883 | cell cycle control | [40] | |
| DAG1 | 3p21.31 | 128239 | cell adhesion | Muscular dystrophy | [40] |
| KIAA1437 | 9q34.11 | 608360 | cell adhesion | Agammaglobulinemia | [76] |
| GJA5 | 1q21.1 | 121013 | gap junction | atrial fibrillation | [48, 49], [50, 57] |
| ROCK1 | 18q11.1 | 601702 | Ser/Thr kinase | [40] | |
| Tetrralogy of Fallot | |||||
| STK33 | 11p15.3 | 607670 | Ser/Thr kinase | [76] | |
| NTRK2 | 9q22.1 | 600456 | Tyr kinase | hyperphagia, and developmental delay | [84] |
| PRKAB2 | 1q21.1 | 602741 | AMP-activated protein kinase subunit | [49] | |
| PEX6 | 6p21.1 | 601498 | ATPase activity | Peroxisome biogenesis disorder | [40] |
| FANCL | 2p16.1 | 608111 | ligase activity | Fanconi anemia | [40] |
| FANCM | 14q21.1 | 609644 | DNA repair | Fanconi anemia | [40] |
| CHD1L | 1q21.1 | 613039 | DNA repair | [49] | |
| PLXNA2 | 1q32.2 | 601054 | axon pathfinding | cardiac hypertrophy | [48] |
| SEMA3D | 7q21.11 | 609907 | development of peripheral axons | Hirschsprung disease | [48] |
| TTN | 2q31.2 | 188840 | muscle development | Dilated cardiomyopathy, hereditary myopathy, tibial muscular dystrophy | [40] |
| EDN1 | 6p24.1 | 131240 | vasoconstriction | Auriculocondylar syndrome | [40] |
| HCN2 | 19p13.3 | 602781 | ion channel | Sinus dysrhytmia | [40] |
| FMR1 | Xq27.3 | 309550 | mRNA trafficing | Fragile X mental retardation, syndrome, ataxia syndrome | [40] |
| APOC3 | 11q23.3 | 107720 | transport activity | Apolipoprotein C-III deficiency | [84] |
| TF | 3q22.1 | 190000 | transport activity | Atransferrinemia | [84] |
| Hypoplastic left heart syndrome | |||||
| FOXC2 | 16q24.1 | 602402 | transcription factor | Lymphedema-distichiasis syndrome | [69] |
| FOXL1 | 16q24.1 | 603252 | transcription factorr | [69] | |
| ZNF423 | 16q12 | 604557 | transcription factor | Joubert syndrome, Nephronophthisis | [69] |
| CHD7 | 8q12.2 | 608892 | transcriptional regulation | CHARGE syndrome | [71] |
| MXD1 | 2p13.3 | 600021 | transcriptional regulation | [87] | |
| KDM5B | 1q32.1 | 605393 | transcriptional regulation | [71] | |
| CTHRC1 | 8q22.3 | 610635 | modulation of Wnt pathway | HELLP syndrome | [59] |
| PLA2G12A | 4q25 | 611652 | modulation of BMP pathway | [59] | |
| BMPR2 | 2q32-33 | 600799 | modulation of BMP and TGFb signaling | Pulmonary hypertension | [69] |
| NOTCH1 | 9q34.3 | 190198 | modulation of NOTCH signaling | Aortic valve disease, Adams-Oliver syndrome | [69] |
| NODAL | 10q22.1 | 601265 | modulation of NODAL pathway | Heterotaxy, double-outlet right ventricle, transposition of the great arteries | [70] |
| NOMO3 | 16p13 | 609159 | modulation of NODAL pathway | Heterotaxy | [70] |
| SMAD2 | 18q21.1 | 601366 | modulation of TGFb signaling | Dextrocardia | [71] |
| ANK1 | 8p11.1 | 612641 | cell communication | Spherocytosis | [87] |
| PPFIA2 | 12q21.31 | 603143 | cell communication | [87] | |
| Hypoplastic left heart syndrome | |||||
| PMP22 | 17p12 | 601097 | cell communication | Charcot-Marie-Tooth disease, Dejerine-Sottas disease, Neuropathy, Roussy-Levy syndrome | [87] |
| SPTA1 | 1q32.1 | 182860 | cell growth and/or maintenance | Elliptocytosis, Pyropoikilocytosis, Spherocytosis | [87] |
| CCNJ | 10q23.33 | no entry | cell cycle control | [87] | |
| MFAP4 | 17p11.2 | 600596 | cell adhesion and interaction | Smith Magenis syndrome | [59] |
| MLL2 | 12q13.12 | 602113 | histone methyltransferase | Kabuki syndrome | [71] |
| WDR5 | 9q34 | 609012 | subunit of histone-methyltransferase complex | [71] | |
| KDM5A | 12p13.33 | 180202 | histone demethylation | [71] | |
| RNF20 | 9q31.1 | 607699 | ubiquitination and methylation | [71] | |
| USP44 | 12q22 | 610993 | ubiquitination | [71] | |
| UBE2B | 5q31.1 | 179095 | DNA repair | [71] | |
| GYPB | 4q31.21 | 111740 | immune response | susceptibility to malaria | [87] |
| PLD6 | 17p11.2 | no entry | hydrolase activity | [87] | |
| FUT8 | 14q24.3 | 602589 | fucose transfer | [65] | |
| CFC1 | 2q21.1 | 605194 | patterning of right-left embryonic axis | [70] | |
| GRM1 | 6q24.3 | 604473 | transport activity | autosomal recessive spinocerebellar ataxia | [87] |
| CACNB2 | 10p12.31-33 | 600003 | transport activity | Brugada syndrome | [87] |