TBX5 T-box 5

Gene info

Synonyms

None

Previous symbol

HOS

External ID

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

Disease info

Disease

CHD Phenotype

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

Extra Cardiac Phenotype

None

Incomplete penetrance

Unknown

Variable expressivity

Unknown

Animal model

Mouse study

Mice heterozygous or homozygous for 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 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., … 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. 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. DOI:10.1080/14737159.2017.1300062 PMID:28274167