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 |
|---|---|---|---|
| RS1396124456 | Health Risk | Conflicting classifications of pathogenicity | Aortic valve disease 2, Cardiovascular phenotype, Aortic valve disease 2 |
| RS141609745 | Health Risk | Conflicting classifications of pathogenicity | Holt-Oram syndrome, Cardiovascular phenotype, Aortic valve disease 2 |
| RS143068551 | Health Risk | Conflicting classifications of pathogenicity | Aortic valve disease 2, Cardiovascular phenotype, Holt-Oram syndrome |
| RS146908258 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Cardiovascular phenotype |
| RS1565941576 | Health Risk | Conflicting classifications of pathogenicity | Holt-Oram syndrome, Cardiovascular phenotype, Aortic valve disease 2 |
| RS1871568678 | Health Risk | Conflicting classifications of pathogenicity | Aortic valve disease 2, Aortic valve disease 2 |
| RS1871830806 | Health Risk | Conflicting classifications of pathogenicity | Aortic valve disease 2, Aortic valve disease 2 |
| RS200382742 | Health Risk | Conflicting classifications of pathogenicity | Holt-Oram syndrome, Aortic valve disease 2, Cardiovascular phenotype |
| RS200461617 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Holt-Oram syndrome, Aortic valve disease 2 |
| RS201152128 | Health Risk | Conflicting classifications of pathogenicity | Aortic valve disease 2, Cardiovascular phenotype, Aortic valve disease 2 |
| RS201637366 | Health Risk | Conflicting classifications of pathogenicity | Aortic valve disease 2, Cardiovascular phenotype, Holt-Oram syndrome |
| RS2136397905 | Health Risk | Conflicting classifications of pathogenicity | Aortic valve disease 2, Cardiovascular phenotype, Aortic valve disease 2 |
| RS2540471405 | Health Risk | Conflicting classifications of pathogenicity | Aortic valve disease 2, Aortic valve disease 2 |
| RS2540475446 | Health Risk | Conflicting classifications of pathogenicity | Holt-Oram syndrome, Holt-Oram syndrome |
| RS368311885 | Health Risk | Conflicting classifications of pathogenicity | Aortic valve disease 2, Cardiovascular phenotype, Aortic valve disease 2 |
| RS530882236 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Aortic valve disease 2, Cardiovascular phenotype |
| RS556197042 | Health Risk | Conflicting classifications of pathogenicity | Aortic valve disease 2, Cardiovascular phenotype, Aortic valve disease 2 |
| RS577615373 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Aortic valve disease 2, Cardiovascular phenotype |
| RS745378130 | Health Risk | Conflicting classifications of pathogenicity | Aortic valve disease 2, Cardiovascular phenotype, Holt-Oram syndrome |
| RS758752836 | Health Risk | Conflicting classifications of pathogenicity | Aortic valve disease 2, Cardiovascular phenotype, Aortic valve disease 2 |
| RS759976245 | Health Risk | Conflicting classifications of pathogenicity | Aortic valve disease 2, Cardiovascular phenotype, Aortic valve disease 2 |
| RS761952835 | Health Risk | Conflicting classifications of pathogenicity | Aortic valve disease 2, Cardiovascular phenotype, Aortic valve disease 2 |
| RS763827720 | Health Risk | Conflicting classifications of pathogenicity | Holt-Oram syndrome, Cardiovascular phenotype, Aortic valve disease 2 |
| RS771400478 | Health Risk | Conflicting classifications of pathogenicity | Holt-Oram syndrome, Aortic valve disease 2, Holt-Oram syndrome |
| RS775748269 | Health Risk | Conflicting classifications of pathogenicity | Holt-Oram syndrome, Aortic valve disease 2, Cardiovascular phenotype |
| RS886044059 | Health Risk | Conflicting classifications of pathogenicity | Holt-Oram syndrome, Holt-Oram syndrome |
| RS886048997 | Health Risk | Conflicting classifications of pathogenicity | Holt-Oram syndrome, Cardiovascular phenotype, Holt-Oram syndrome |
| RS1057519050 | Health Risk | Likely pathogenic | Familial atrioventricular septal defect, Familial atrioventricular septal defect |
| RS1131691460 | Health Risk | Likely pathogenic | — |
| RS1131691932 | Health Risk | Likely pathogenic | — |
| RS1555223294 | Health Risk | Likely pathogenic | Congenital heart disease (variable), Congenital heart disease (variable), Congenital heart disease (variable) |
| RS1555226301 | Health Risk | Likely pathogenic | Holt-Oram syndrome, Holt-Oram syndrome |
| RS1555226575 | Health Risk | Likely pathogenic | Holt-Oram syndrome, Holt-Oram syndrome |
| RS1555226584 | Health Risk | Likely pathogenic | — |
| RS1565935314 | Health Risk | Likely pathogenic | Holt-Oram syndrome, Holt-Oram syndrome |
| RS1565935426 | Health Risk | Likely pathogenic | Holt-Oram syndrome, Holt-Oram syndrome |
| RS1565935458 | Health Risk | Likely pathogenic | Holt-Oram syndrome, Holt-Oram syndrome |
| RS1565940841 | Health Risk | Likely pathogenic | Holt-Oram syndrome, Holt-Oram syndrome |
| RS1565941072 | Health Risk | Likely pathogenic | Aortic valve disease 2, Aortic valve disease 2 |
| RS1565941579 | Health Risk | Likely pathogenic | 6 conditions, Holt-Oram syndrome, 6 conditions |
| RS1870765797 | Health Risk | Likely pathogenic | Holt-Oram syndrome, Holt-Oram syndrome |
| RS1870766319 | Health Risk | Likely pathogenic | — |
| RS1871328960 | Health Risk | Likely pathogenic | Aortic valve disease 2, Aortic valve disease 2 |
| RS2136411098 | Health Risk | Likely pathogenic | Aortic valve disease 2, TBX5-related disorder, Aortic valve disease 2 |
| RS2136416601 | Health Risk | Likely pathogenic | Aortic valve disease 2, Aortic valve disease 2 |
| RS2540424549 | Health Risk | Likely pathogenic | Cardiovascular phenotype, Aortic valve disease 2, Cardiovascular phenotype |
| RS2540425164 | Health Risk | Likely pathogenic | Cardiovascular phenotype, Cardiovascular phenotype |
| RS2540457891 | Health Risk | Likely pathogenic | Holt-Oram syndrome, Holt-Oram syndrome |
| RS2540467182 | Health Risk | Likely pathogenic | Aortic valve disease 2, Aortic valve disease 2 |
| RS2540471325 | Health Risk | Likely pathogenic | — |