Bleeding and Platelet Disorders
Gene: TBXA2R

TBXA2R (thromboxane A2 receptor)
EnsemblGeneIds (GRCh38): ENSG00000006638
EnsemblGeneIds (GRCh37): ENSG00000006638
OMIM: 188070, Gene2Phenotype
TBXA2R is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Susceptibility to platelet-type bleeding disorder-13 is due to a defective thromboxane A2 receptor on platelets. The susceptibility is inherited in an autosomal dominant pattern, but clinical features, including mild mucocutaneous bleeding, occur only in the presence of a 'second hit' affecting platelet function; this second hit may be either in the TBXA2R gene or in another gene affecting the coagulation cascade. Amber rating as not clearly a Mendelian disorder.
Created: 4 Jun 2021, 2 a.m. | Last Modified: 4 Jun 2021, 2 a.m.

Panel Version: 0.297

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
{Bleeding disorder, platelet-type, 13, susceptibility to}, MIM# 614009

Publications

Created: 4 Jun 2021, 2 a.m.
Last Modified: 4 Jun 2021, 2 a.m.
Panel version: 0.297

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Amber
Victorian Clinical Genetics Services

Phenotypes

{Bleeding disorder, platelet-type, 13, susceptibility to}, MIM# 614009

OMIM

188070

Clinvar variants

Variants in TBXA2R

Penetrance

None

Publications

Panels with this gene