TBX5 T-box 5

Gene info



Previous symbol


External ID

HGNC: 11604
Entrez Gene: 6910
Ensembl: ENSG00000089225
UCSC: uc001tvp.4
OMIM: 601620
UniProtKB: Q99593

Disease info


CHD Phenotype

  • Atrial septal defect
  • Ventricular septal defect
  • Atrioventricular septal defect

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

Download annotation file for TBX5: BED file

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Selected References

  1. Basson, C. T., Huang, T., Lin, R. C., Bachinsky, D. R., Weremowicz, S., Vaglio, A., Bruzzone, R., Quadrelli, R., Lerone, M., Romeo, G., Silengo, M., Pereira, A., Krieger, J., Mesquita, S. F., Kamisago, M., Morton, C. C., Pierpont, M. E. M., Müller, C. W., Seidman, J. G., & Seidman, C. E. (1999). Different TBX5 interactions in heart and limb defined by Holt–Oram syndrome mutations. Proceedings of the National Academy of Sciences, 96(6), 2919–2924. https://doi.org/10.1073/pnas.96.6.2919 DOI:10.1073/pnas.96.6.2919 PMID:10077612
  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