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 |
|---|---|---|---|
| RS1565935405 | Health Risk | Pathogenic | Holt-Oram syndrome, Aortic valve disease 2, Holt-Oram syndrome |
| RS1565935410 | Health Risk | Pathogenic | Holt-Oram syndrome, Holt-Oram syndrome |
| RS1565935432 | Health Risk | Pathogenic | Holt-Oram syndrome, Holt-Oram syndrome |
| RS1565939204 | Health Risk | Pathogenic | Holt-Oram syndrome, Holt-Oram syndrome |
| RS1565939215 | Health Risk | Pathogenic | Holt-Oram syndrome, Aortic valve disease 2, Aortic valve disease 2 |
| RS1565939303 | Health Risk | Pathogenic | Holt-Oram syndrome, Holt-Oram syndrome |
| RS1565939337 | Health Risk | Pathogenic | Holt-Oram syndrome, Holt-Oram syndrome |
| RS1565940856 | Health Risk | Pathogenic | Holt-Oram syndrome, Holt-Oram syndrome |
| RS1565940860 | Health Risk | Pathogenic | Holt-Oram syndrome, Holt-Oram syndrome |
| RS1565940930 | Health Risk | Pathogenic | Holt-Oram syndrome, Holt-Oram syndrome |
| RS1565941003 | Health Risk | Pathogenic | Holt-Oram syndrome, Holt-Oram syndrome |
| RS1565941046 | Health Risk | Pathogenic | Aortic valve disease 2, Aortic valve disease 2 |
| RS1565941422 | Health Risk | Pathogenic | Holt-Oram syndrome, Holt-Oram syndrome |
| RS1565941434 | Health Risk | Pathogenic | Holt-Oram syndrome, Holt-Oram syndrome |
| RS1565941529 | Health Risk | Pathogenic | Holt-Oram syndrome, Holt-Oram syndrome |
| RS1565941587 | Health Risk | Pathogenic | Holt-Oram syndrome, Holt-Oram syndrome |
| RS1565942511 | Health Risk | Pathogenic | Holt-Oram syndrome, Aortic valve disease 2, Aortic valve disease 2 |
| RS1565943262 | Health Risk | Pathogenic | Aortic valve disease 2, Aortic valve disease 2 |
| RS1565943328 | Health Risk | Pathogenic | Holt-Oram syndrome, Holt-Oram syndrome |
| RS1593836748 | Health Risk | Pathogenic | Aortic valve disease 2, Aortic valve disease 2 |
| RS1593847163 | Health Risk | Pathogenic | Aortic valve disease 2, Aortic valve disease 2 |
| RS1593876058 | Health Risk | Pathogenic | Holt-Oram syndrome, Holt-Oram syndrome |
| RS1593880204 | Health Risk | Pathogenic | Holt-Oram syndrome, Holt-Oram syndrome |
| RS1593883930 | Health Risk | Pathogenic | Aortic valve disease 2, Aortic valve disease 2 |
| RS1868888758 | Health Risk | Pathogenic | — |
| RS1869529188 | Health Risk | Pathogenic | Holt-Oram syndrome, Holt-Oram syndrome |
| RS1869539814 | Health Risk | Pathogenic | Aortic valve disease 2, Aortic valve disease 2 |
| RS1870762150 | Health Risk | Pathogenic | Aortic valve disease 2, Aortic valve disease 2 |
| RS1871328488 | Health Risk | Pathogenic | Aortic valve disease 2, TBX5-related disorder, Aortic valve disease 2 |
| RS1871659583 | Health Risk | Pathogenic | Holt-Oram syndrome, Holt-Oram syndrome |
| RS1871662633 | Health Risk | Pathogenic | Holt-Oram syndrome, Holt-Oram syndrome |
| RS1871673161 | Health Risk | Pathogenic | Aortic valve disease 2, Aortic valve disease 2 |
| RS1871673582 | Health Risk | Pathogenic | Aortic valve disease 2, Holt-Oram syndrome, Aortic valve disease 2 |
| RS1871830996 | Health Risk | Pathogenic | Aortic valve disease 2, Aortic valve disease 2 |
| RS1872004016 | Health Risk | Pathogenic | Aortic valve disease 2, Aortic valve disease 2 |
| RS2136360259 | Health Risk | Pathogenic | Aortic valve disease 2, Aortic valve disease 2 |
| RS2136360335 | Health Risk | Pathogenic | Aortic valve disease 2, Aortic valve disease 2 |
| RS2136373207 | Health Risk | Pathogenic | Aortic valve disease 2, Aortic valve disease 2 |
| RS2136373795 | Health Risk | Pathogenic | Aortic valve disease 2, Aortic valve disease 2 |
| RS2136373802 | Health Risk | Pathogenic | Aortic valve disease 2, Aortic valve disease 2 |
| RS2136397746 | Health Risk | Pathogenic | Aortic valve disease 2, Aortic valve disease 2, Aortic valve disease 2 |
| RS2136410724 | Health Risk | Pathogenic | Primary dilated cardiomyopathy, Aortic valve disease 2, Primary dilated cardiomyopathy |
| RS2136416963 | Health Risk | Pathogenic | Aortic valve disease 2, Aortic valve disease 2 |
| RS2136418056 | Health Risk | Pathogenic | Aortic valve disease 2, Aortic valve disease 2 |
| RS2136418232 | Health Risk | Pathogenic | Holt-Oram syndrome, Holt-Oram syndrome |
| RS2136418265 | Health Risk | Pathogenic | Aortic valve disease 2, Aortic valve disease 2 |
| RS2136418310 | Health Risk | Pathogenic | Aortic valve disease 2, Aortic valve disease 2 |
| RS2136421561 | Health Risk | Pathogenic | Holt-Oram syndrome, Holt-Oram syndrome |
| RS2540436107 | Health Risk | Pathogenic | Aortic valve disease 2, Aortic valve disease 2 |
| RS2540436238 | Health Risk | Pathogenic | Aortic valve disease 2, Aortic valve disease 2 |