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 |
|---|---|---|---|
| RS2540471641 | Health Risk | Likely pathogenic | Holt-Oram syndrome, Holt-Oram syndrome |
| RS2540472643 | Health Risk | Likely pathogenic | Holt-Oram syndrome, Holt-Oram syndrome |
| RS2540475270 | Health Risk | Likely pathogenic | Aortic valve disease 2, Aortic valve disease 2 |
| RS377649723 | Health Risk | Likely pathogenic | Holt-Oram syndrome, Holt-Oram syndrome |
| RS515726234 | Health Risk | Likely pathogenic | Heart, malformation of, Heart |
| RS863223778 | Health Risk | Likely pathogenic | Holt-Oram syndrome, Holt-Oram syndrome |
| RS863223782 | Health Risk | Likely pathogenic | — |
| RS104894377 | Health Risk | Pathogenic | Holt-Oram syndrome, Holt-Oram syndrome |
| RS104894378 | Health Risk | Pathogenic | Holt-Oram syndrome, Aortic valve disease 2, Cardiovascular phenotype |
| RS104894379 | Health Risk | Pathogenic | Holt-Oram syndrome, TBX5-related disorder, Holt-Oram syndrome |
| RS104894381 | Health Risk | Pathogenic | Holt-Oram syndrome, Holt-Oram syndrome |
| RS104894382 | Health Risk | Pathogenic | Holt-Oram syndrome, Heart, malformation of |
| RS104894383 | Health Risk | Pathogenic | Holt-Oram syndrome, Holt-Oram syndrome |
| RS104894384 | Health Risk | Pathogenic | Holt-Oram syndrome, Holt-Oram syndrome |
| RS1057516042 | Health Risk | Pathogenic | Holt-Oram syndrome, Aortic valve disease 2, Holt-Oram syndrome |
| RS1057517833 | Health Risk | Pathogenic | — |
| RS1057518199 | Health Risk | Pathogenic | — |
| RS1057520136 | Health Risk | Pathogenic | Aortic valve disease 2, Aortic valve disease 2 |
| RS1060503154 | Health Risk | Pathogenic | Aortic valve disease 2, Aortic valve disease 2 |
| RS1064794030 | Health Risk | Pathogenic | — |
| RS1064794062 | Health Risk | Pathogenic | — |
| RS1064795870 | Health Risk | Pathogenic | Holt-Oram syndrome, Holt-Oram syndrome |
| RS1208004863 | Health Risk | Pathogenic | Aortic valve disease 2, Aortic valve disease 2 |
| RS1408227928 | Health Risk | Pathogenic | Aortic valve disease 2, Aortic valve disease 2 |
| RS1555223259 | Health Risk | Pathogenic | Atrial septal defect, ostium secundum type, Ventricular septal defect |
| RS1555225344 | Health Risk | Pathogenic | Aortic valve disease 2, Holt-Oram syndrome, Aortic valve disease 2 |
| RS1555225989 | Health Risk | Pathogenic | Aortic valve disease 2, Aortic valve disease 2 |
| RS1555226005 | Health Risk | Pathogenic | Aortic valve disease 2, Aortic valve disease 2 |
| RS1555226305 | Health Risk | Pathogenic | — |
| RS1555226315 | Health Risk | Pathogenic | Atrial septal defect 1, Holt-Oram syndrome, Atrial septal defect 1 |
| RS1555226322 | Health Risk | Pathogenic | Aortic valve disease 2, Aortic valve disease 2 |
| RS1555226412 | Health Risk | Pathogenic | — |
| RS1555226420 | Health Risk | Pathogenic | Aortic valve disease 2, Aortic valve disease 2 |
| RS1555226588 | Health Risk | Pathogenic | — |
| RS1565923488 | Health Risk | Pathogenic | Holt-Oram syndrome, Holt-Oram syndrome |
| RS1565923537 | Health Risk | Pathogenic | Holt-Oram syndrome, Holt-Oram syndrome |
| RS1565923835 | Health Risk | Pathogenic | Aortic valve disease 2, Aortic valve disease 2 |
| RS1565923863 | Health Risk | Pathogenic | Holt-Oram syndrome, Holt-Oram syndrome |
| RS1565923887 | Health Risk | Pathogenic | Holt-Oram syndrome, Holt-Oram syndrome |
| RS1565927614 | Health Risk | Pathogenic | Holt-Oram syndrome, Holt-Oram syndrome |
| RS1565927645 | Health Risk | Pathogenic | Holt-Oram syndrome, Holt-Oram syndrome |
| RS1565927664 | Health Risk | Pathogenic | Holt-Oram syndrome, Holt-Oram syndrome |
| RS1565927673 | Health Risk | Pathogenic | Holt-Oram syndrome, Holt-Oram syndrome |
| RS1565927740 | Health Risk | Pathogenic | Holt-Oram syndrome, Holt-Oram syndrome |
| RS1565927747 | Health Risk | Pathogenic | Aortic valve disease 2, Holt-Oram syndrome, Aortic valve disease 2 |
| RS1565927794 | Health Risk | Pathogenic | Holt-Oram syndrome, Holt-Oram syndrome |
| RS1565927906 | Health Risk | Pathogenic | — |
| RS1565935345 | Health Risk | Pathogenic | Holt-Oram syndrome, Holt-Oram syndrome |
| RS1565935383 | Health Risk | Pathogenic | Holt-Oram syndrome, Holt-Oram syndrome |
| RS1565935397 | Health Risk | Pathogenic | Holt-Oram syndrome, Holt-Oram syndrome |