TBX5 Chromosome 12
T-box transcription factor 5
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What This Gene Does
This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This gene is closely linked to related family member T-box 3 (ulnar mammary syndrome) on human chromosome 12. The encoded protein may play a role in heart development and specification of limb identity. Mutations in this gene have been associated with Holt-Oram syndrome, a developmental disorder affecting the heart and upper limbs. Several transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
T-box transcription factors
Locus Type
gene with protein product
Location
12q24.21
Ensembl
ENSG00000089225
Associated Conditions (15)
Aortic valve disease 2
Cardiovascular phenotype
Holt-Oram syndrome
TBX5-related disorder
Familial atrioventricular septal defect
Congenital heart disease (variable)
6 conditions
Heart
malformation of
Atrial septal defect
ostium secundum type
Ventricular septal defect
Mitral regurgitation
Atrial septal defect 1
Primary dilated cardiomyopathy
Key Variants
RS1396124456
Conflicting classifications of pathogenicity
Aortic valve disease 2, Cardiovascular phenotype, Aortic valve disease 2
Health Risk
RS141609745
Conflicting classifications of pathogenicity
Holt-Oram syndrome, Cardiovascular phenotype, Aortic valve disease 2
Health Risk
RS143068551
Conflicting classifications of pathogenicity
Aortic valve disease 2, Cardiovascular phenotype, Holt-Oram syndrome
Health Risk
RS146908258
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Cardiovascular phenotype
Health Risk
RS1565941576
Conflicting classifications of pathogenicity
Holt-Oram syndrome, Cardiovascular phenotype, Aortic valve disease 2
Health Risk
RS1871568678
Conflicting classifications of pathogenicity
Aortic valve disease 2, Aortic valve disease 2
Health Risk
RS1871830806
Conflicting classifications of pathogenicity
Aortic valve disease 2, Aortic valve disease 2
Health Risk
RS200382742
Conflicting classifications of pathogenicity
Holt-Oram syndrome, Aortic valve disease 2, Cardiovascular phenotype
Health Risk
RS200461617
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Holt-Oram syndrome, Aortic valve disease 2
Health Risk
RS201152128
Conflicting classifications of pathogenicity
Aortic valve disease 2, Cardiovascular phenotype, Aortic valve disease 2
Health Risk
RS201637366
Conflicting classifications of pathogenicity
Aortic valve disease 2, Cardiovascular phenotype, Holt-Oram syndrome
Health Risk
RS2136397905
Conflicting classifications of pathogenicity
Aortic valve disease 2, Cardiovascular phenotype, Aortic valve disease 2
Health Risk
All Variants (183)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2540436280 | Health Risk | Pathogenic | Holt-Oram syndrome, Holt-Oram syndrome |
| RS2540436320 | Health Risk | Pathogenic | Aortic valve disease 2, Aortic valve disease 2 |
| RS2540457334 | Health Risk | Pathogenic | Holt-Oram syndrome, Holt-Oram syndrome |
| RS2540466994 | Health Risk | Pathogenic | Aortic valve disease 2, Aortic valve disease 2 |
| RS2540467152 | Health Risk | Pathogenic | Holt-Oram syndrome, Holt-Oram syndrome |
| RS2540471436 | Health Risk | Pathogenic | Cardiovascular phenotype, Cardiovascular phenotype |
| RS2540471519 | Health Risk | Pathogenic | — |
| RS2540472661 | Health Risk | Pathogenic | Holt-Oram syndrome, Holt-Oram syndrome |
| RS2540475443 | Health Risk | Pathogenic | — |
| RS2540477662 | Health Risk | Pathogenic | Aortic valve disease 2, Aortic valve disease 2 |
| RS483353129 | Health Risk | Pathogenic | — |
| RS756049331 | Health Risk | Pathogenic | Holt-Oram syndrome, Holt-Oram syndrome |
| RS765204502 | Health Risk | Pathogenic | Holt-Oram syndrome, Aortic valve disease 2, Holt-Oram syndrome |
| RS773397553 | Health Risk | Pathogenic | — |
| RS863223773 | Health Risk | Pathogenic | — |
| RS863223777 | Health Risk | Pathogenic | Aortic valve disease 2, Aortic valve disease 2 |
| RS863223783 | Health Risk | Pathogenic | — |
| RS863223784 | Health Risk | Pathogenic | — |
| RS863223785 | Health Risk | Pathogenic | — |
| RS863223786 | Health Risk | Pathogenic | Aortic valve disease 2, Aortic valve disease 2 |
| RS863223788 | Health Risk | Pathogenic | Aortic valve disease 2, Holt-Oram syndrome, TBX5-related disorder |
| RS867641094 | Health Risk | Pathogenic | — |
| RS878853750 | Health Risk | Pathogenic | Aortic valve disease 2, Aortic valve disease 2 |
| RS886041247 | Health Risk | Pathogenic | Aortic valve disease 2, Holt-Oram syndrome, Cardiovascular phenotype |
| RS886041606 | Health Risk | Pathogenic | — |
| RS903933027 | Health Risk | Pathogenic | Holt-Oram syndrome, Holt-Oram syndrome |
| RS1555226581 | Health Risk | Pathogenic/Likely pathogenic | Holt-Oram syndrome, Holt-Oram syndrome |
| RS1593881162 | Health Risk | Pathogenic/Likely pathogenic | Aortic valve disease 2, Cardiovascular phenotype, Aortic valve disease 2 |
| RS1869545659 | Health Risk | Pathogenic/Likely pathogenic | Aortic valve disease 2, Holt-Oram syndrome, Aortic valve disease 2 |
| RS2136373205 | Health Risk | Pathogenic/Likely pathogenic | Aortic valve disease 2, Cardiovascular phenotype, Aortic valve disease 2 |
| RS2136421421 | Health Risk | Pathogenic/Likely pathogenic | Holt-Oram syndrome, Holt-Oram syndrome |
| RS767197919 | Health Risk | Pathogenic/Likely pathogenic | Holt-Oram syndrome, Holt-Oram syndrome, Cardiovascular phenotype |
| RS863223776 | Health Risk | Pathogenic/Likely pathogenic | TBX5-related disorder, Holt-Oram syndrome, Aortic valve disease 2 |