TBX20 Chromosome 7
T-box transcription factor 20
Upload your DNA to see your personal genotypes for variants in TBX20.
What This Gene Does
This gene encodes a T-box family member. The T-box family members share a common DNA binding domain, termed the T-box, and they are transcription factors involved in the regulation of developmental processes. This gene is essential for heart development. Mutations in this gene are associated with diverse cardiac pathologies, including defects in septation, valvulogenesis and cardiomyopathy. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
Gene Info
Gene Group
T-box transcription factors
Locus Type
gene with protein product
Location
7p14.2
Ensembl
ENSG00000164532
Associated Conditions (8)
Cardiovascular phenotype
TBX20-related disorder
Primary dilated cardiomyopathy
Atrial septal defect 4
Hypoplastic left heart syndrome
Hypoplastic right heart syndrome
Wolff-Parkinson-White pattern
Aortic valve disease 1
Key Variants
RS144597480
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Cardiovascular phenotype
Health Risk
RS1463237905
Conflicting classifications of pathogenicity
Cardiovascular phenotype, TBX20-related disorder, Cardiovascular phenotype
Health Risk
RS147393830
Conflicting classifications of pathogenicity
Primary dilated cardiomyopathy, Cardiovascular phenotype, Primary dilated cardiomyopathy
Health Risk
RS191362319
Conflicting classifications of pathogenicity
Atrial septal defect 4, Atrial septal defect 4
Health Risk
RS201217462
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Cardiovascular phenotype
Health Risk
RS375484585
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Cardiovascular phenotype
Health Risk
RS748900621
Conflicting classifications of pathogenicity
Atrial septal defect 4, Cardiovascular phenotype, Atrial septal defect 4
Health Risk
RS761878149
Conflicting classifications of pathogenicity
Health Risk
RS767429245
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Cardiovascular phenotype
Health Risk
RS1790276091
Likely pathogenic
Cardiovascular phenotype, Cardiovascular phenotype
Health Risk
RS2128714675
Likely pathogenic
Health Risk
RS2128715250
Likely pathogenic
Health Risk
All Variants (40)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS144597480 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Cardiovascular phenotype |
| RS1463237905 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, TBX20-related disorder, Cardiovascular phenotype |
| RS147393830 | Health Risk | Conflicting classifications of pathogenicity | Primary dilated cardiomyopathy, Cardiovascular phenotype, Primary dilated cardiomyopathy |
| RS191362319 | Health Risk | Conflicting classifications of pathogenicity | Atrial septal defect 4, Atrial septal defect 4 |
| RS201217462 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Cardiovascular phenotype |
| RS375484585 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Cardiovascular phenotype |
| RS748900621 | Health Risk | Conflicting classifications of pathogenicity | Atrial septal defect 4, Cardiovascular phenotype, Atrial septal defect 4 |
| RS761878149 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS767429245 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Cardiovascular phenotype |
| RS1790276091 | Health Risk | Likely pathogenic | Cardiovascular phenotype, Cardiovascular phenotype |
| RS2128714675 | Health Risk | Likely pathogenic | — |
| RS2128715250 | Health Risk | Likely pathogenic | — |
| RS2546989855 | Health Risk | Likely pathogenic | — |
| RS2546994664 | Health Risk | Likely pathogenic | Atrial septal defect 4, Atrial septal defect 4 |
| RS2546997554 | Health Risk | Likely pathogenic | Cardiovascular phenotype, Cardiovascular phenotype |
| RS1307889134 | Health Risk | Pathogenic | — |
| RS137852955 | Health Risk | Pathogenic | Atrial septal defect 4, Atrial septal defect 4 |
| RS1434123349 | Health Risk | Pathogenic | — |
| RS1474780670 | Health Risk | Pathogenic | — |
| RS1554284604 | Health Risk | Pathogenic | Hypoplastic left heart syndrome, Hypoplastic right heart syndrome, Wolff-Parkinson-White pattern |
| RS2128709746 | Health Risk | Pathogenic | — |
| RS2128714664 | Health Risk | Pathogenic | Cardiovascular phenotype, Cardiovascular phenotype |
| RS2128715965 | Health Risk | Pathogenic | — |
| RS2128716140 | Health Risk | Pathogenic | — |
| RS2128716604 | Health Risk | Pathogenic | — |
| RS2546993178 | Health Risk | Pathogenic | Cardiovascular phenotype, Cardiovascular phenotype |
| RS2546993203 | Health Risk | Pathogenic | — |
| RS2546994710 | Health Risk | Pathogenic | — |
| RS2546994724 | Health Risk | Pathogenic | — |
| RS2546996345 | Health Risk | Pathogenic | — |
| RS2546996367 | Health Risk | Pathogenic | — |
| RS2546996400 | Health Risk | Pathogenic | — |
| RS2546996503 | Health Risk | Pathogenic | — |
| RS2546996539 | Health Risk | Pathogenic | Cardiovascular phenotype, Cardiovascular phenotype |
| RS2546997268 | Health Risk | Pathogenic | — |
| RS267607106 | Health Risk | Pathogenic | Atrial septal defect 4, Atrial septal defect 4 |
| RS931492981 | Health Risk | Pathogenic | — |
| RS1562567739 | Health Risk | Pathogenic/Likely pathogenic | Cardiovascular phenotype, Cardiovascular phenotype |
| RS2546997545 | Health Risk | Pathogenic/Likely pathogenic | Cardiovascular phenotype, Cardiovascular phenotype |
| RS766692577 | Health Risk | Pathogenic/Likely pathogenic | Aortic valve disease 1, Atrial septal defect 4, Aortic valve disease 1 |