TBX1 T-box 1

Gene info



Previous symbol


External ID

HGNC: 11592
Entrez Gene: 6899
Ensembl: ENSG00000184058
UCSC: uc002zqa.2
OMIM: 602054
UniProtKB: O43435

Disease info

CHD Phenotype

  • Ventricular septal defect
  • Interrupted aortic arch
  • Tetralogy of fallot
  • Double outlet right ventricle

Extra Cardiac Phenotype


Incomplete penetrance


Variable expressivity


Animal model

Mouse study

MGI: Mice heterozygous or homozygous for single base mutations or 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 TBX1: BED file

Genome browser powered by igv.js

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. Gong, W. (2001). Mutation analysis of TBX1 in non-deleted patients with features of DGS/VCFS or isolated cardiovascular defects. Journal of Medical Genetics, 38(12), 45e–445. https://doi.org/10.1136/jmg.38.12.e45 DOI:10.1136/jmg.38.12.e45 PMID:11748311
  3. Yagi, H., Furutani, Y., Hamada, H., Sasaki, T., Asakawa, S., Minoshima, S., Ichida, F., Joo, K., Kimura, M., Imamura, S., Kamatani, N., Momma, K., Takao, A., Nakazawa, M., Shimizu, N., & Matsuoka, R. (2003). Role of TBX1 in human del22q11.2 syndrome. The Lancet, 362(9393), 1366–1373. https://doi.org/10.1016/s0140-6736(03)14632-6 DOI:10.1016/S0140-6736(03)14632-6
  4. Zweier, C., Sticht, H., Aydin-Yaylagül, I., Campbell, C. E., & Rauch, A. (2007). Human TBX1 Missense Mutations Cause Gain of Function Resulting in the Same Phenotype as 22q11.2 Deletions. The American Journal of Human Genetics, 80(3), 510–517. https://doi.org/10.1086/511993 DOI:10.1086/511993 PMID:17273972