TBX20 T-box 20

Gene info



Previous symbol


External ID

HGNC: 11598
Entrez Gene: 57057
Ensembl: ENSG00000164532
UCSC: uc011kas.3
OMIM: 606061
UniProtKB: Q9UMR3

Disease info

CHD Phenotype

  • Atrial septal defect
  • Ventricular septal defect
  • Patent ductus arteriosus
  • Patent foramen ovale
  • Coarctation of the aorta
  • Double outlet right ventricle
  • Hypoplastic left heart syndrome

Extra Cardiac Phenotype


Incomplete penetrance


Variable expressivity


Animal model

Mouse study

MGI: Mice heterozygous or homozygous for a null allele have CHD


Variant info


Selected variant

The Clinvar variants presented in the below IGV track were selected based on the following criteria.

  1. Variant types are single nucleotide variant or Indel
  2. Clinical significance for the variant was assessed to be Pathogenic or Likely Pathogenic
  3. ClinVar review status for the variant is criteria provided

No variant passing our criteria was found for TBX20.

Selected References

  1. Wessels, M., & Willems, P. (2010). Genetic factors in non-syndromic congenital heart malformations. Clinical Genetics, 78(2), 103–123. https://doi.org/10.1111/j.1399-0004.2010.01435.x DOI:10.1111/j.1399-0004.2010.01435.x PMID:20497191
  2. Li, Y.-J., & Yang, Y.-Q. (2017). An update on the molecular diagnosis of congenital heart disease: focus on loss-of-function mutations. Expert Review of Molecular Diagnostics, 17(4), 393–401. https://doi.org/10.1080/14737159.2017.1300062 DOI:10.1080/14737159.2017.1300062 PMID:28274167
  3. Kirk, E. P., Sunde, M., Costa, M. W., Rankin, S. A., Wolstein, O., Castro, M. L., Butler, T. L., Hyun, C., Guo, G., Otway, R., Mackay, J. P., Waddell, L. B., Cole, A. D., Hayward, C., Keogh, A., Macdonald, P., Griffiths, L., Fatkin, D., Sholler, G. F., … Harvey, R. P. (2007). Mutations in Cardiac T-Box Factor Gene TBX20 Are Associated with Diverse Cardiac Pathologies, Including Defects of Septation and Valvulogenesis and Cardiomyopathy. The American Journal of Human Genetics, 81(2), 280–291. https://doi.org/10.1086/519530 DOI:10.1086/519530 PMID:17668378
  4. Posch, M. G., Gramlich, M., Sunde, M., Schmitt, K. R., Lee, S. H. Y., Richter, S., Kersten, A., Perrot, A., Panek, A. N., Al Khatib, I. H., Nemer, G., Megarbane, A., Dietz, R., Stiller, B., Berger, F., Harvey, R. P., & Ozcelik, C. (2009). A gain-of-function TBX20 mutation causes congenital atrial septal defects, patent foramen ovale and cardiac valve defects. Journal of Medical Genetics, 47(4), 230–235. https://doi.org/10.1136/jmg.2009.069997 DOI:10.1136/jmg.2009.069997 PMID:19762328