TBX3 T-box 3

Gene info

Synonyms

TBX3-ISO, XHL

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

MGI: Homozygous null mice die are embryonic lethal. Mice homozygous for hypomorphic alleles have CHD.

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

No variant passing our criteria was found for TBX3.

Selected References

None