TBX1 T-box 1

Gene info

Synonyms

CATCH22

Previous symbol

VCF

External ID

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

Disease info

CHD Phenotype

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

Extra Cardiac Phenotype

None

Incomplete penetrance

Unknown

Variable expressivity

Unknown

Animal model

Mouse study

Mice heterozygous or homozygous for single base mutations or a null allele have CHD

MGI ID

Variant info

Clinvar

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

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Selected References

  1. Wessels, M., & Willems, P. (2010). Genetic factors in non-syndromic congenital heart malformations. Clinical Genetics, 78(2), 103–123. 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–45. DOI:10.1136/jmg.38.12.e45 PMID:11748311
  3. Yagi, H., Furutani, Y., Hamada, H., Sasaki, T., Asakawa, S., Minoshima, S., … Matsuoka, R. (2003). Role of TBX1 in human del22q11.2 syndrome. The Lancet, 362(9393), 1366–1373. DOI:10.1016/S0140-6736(03)14632-6 PMID:14585638
  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. DOI:10.1086/511993 PMID:17273972