TBX3 T-box transcription factor 3

Gene info

Synonyms

None

Previous symbol

UMS

External ID

HGNC: 11602
Entrez Gene: 6926
Ensembl: ENSG00000135111
UCSC: uc001tvt.2
OMIM: 601621
UniProtKB: O15119

Disease info

Disease

None

CHD Phenotype

  • Ventricular septal defect

Extra Cardiac Phenotype

Posterior limb deficiencies or duplications, apocrine/mammary gland hypoplasia and/or dysfunction, abnormal dentition, delayed puberty in males, genital anomalies

Incomplete penetrance

Unknown

Variable expressivity

Unknown

Animal model

Mouse study

1

MGI ID

98495

Variant info

Clinvar

TBX3

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 , Likely Pathogenic or Pathogenic/Likely Pathogenic
  3. ClinVar review status for the variant is criteria provided

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Selected References

  1. https://panelapp-aus.org/panels/76/gene/TBX3/