Tetralogy Of Fallot(Fallot tetralogy) Explore Disorder's Alias
An Autosomal dominant mode(s) within the Cardiovascular disorders category
Candidate Gene Information
An Autosomal dominant mode(s) within the Cardiovascular disorders category
Reported Pathogenic variants
| S.No. | Name/GeneID | Description | Cytogentic Band | Gene Location on genomic DNA | Gene Length | Exons | Details | Gene Cross-References |
| 1 | JAG1/182 | jagged canonical Notch ligand 1 | 20p12.2 | Chr20, NC_000020.11 (10637684..10673999, complement) |
36316 nt | 26 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | NKX2-5/1482 | NK2 homeobox 5 | 5q35.1 | Chr5, NC_000005.10 (173232109..173235206, complement) |
3098 nt | 3 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 3 | GATA4/2626 | GATA binding protein 4 | 8p23.1 | Chr8, NC_000008.11 (11676935..11760002) |
83068 nt | 9 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 4 | GATA6/2627 | GATA binding protein 6 | 18q11.2 | Chr18, NC_000018.10 (22169589..22202528) |
32940 nt | 8 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 5 | ZFPM2/23414 | zinc finger protein, FOG family member 2 | 8q23.1 | Chr8, NC_000008.11 (105318438..105804539) |
486102 nt | 15 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 6 | EPHB4/2050 | EPH receptor B4 | 7q22.1 | Chr7, NC_000007.14 (100802565..100827523, complement) |
24959 nt | 17 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 7 | NOTCH1/4851 | notch receptor 1 | 9q34.3 | Chr9, NC_000009.12 (136494433..136546048, complement) |
51616 nt | 34 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 8 | TPM1/7168 | tropomyosin 1 | 15q22.2 | Chr15, NC_000015.10 (63042747..63071915) |
29169 nt | 15 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 9 | TBX1/6899 | T-box transcription factor 1 | 22q11.21 | Chr22, NC_000022.11 (19756703..19783593) |
26891 nt | 13 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 10 | NIPBL/25836 | NIPBL cohesin loading factor | 5p13.2 | Chr5, NC_000005.10 (36876769..37066413) |
189645 nt | 48 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 11 | MT-CO1/4512 | mitochondrially encoded cytochrome c oxidase I | - | ChrMT, NC_012920.1 (5904..7445) |
1542 nt | 0 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 12 | MT-CO2/4513 | mitochondrially encoded cytochrome c oxidase II | - | ChrMT, NC_012920.1 (7586..8269) |
684 nt | 0 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 13 | MT-CO3/4514 | mitochondrially encoded cytochrome c oxidase III | - | ChrMT, NC_012920.1 (9207..9990) |
784 nt | 0 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 14 | ROBO1/6091 | roundabout guidance receptor 1 | 3p12.3 | Chr3, NC_000003.12 (78597239..79767998, complement) |
1170760 nt | 35 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 15 | FLNC/2318 | filamin C | 7q32.1 | Chr7, NC_000007.14 (128830406..128859272) |
28867 nt | 48 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: Orphanet OMIM GARD GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative Human Phenotype Ontology NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities
Prevalence
| Under development |