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Inherited bleeding disorders
Gene: TBXA2R

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

2 reviews

Louise Daugherty (Genomics England Curator)

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
Thromboxane A2 receptor defect

Created: 19 Dec 2016, 11:31 a.m.

Panel version: 0.18

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
Thromboxane A2 receptor defect

Variants in this GENE are reported as part of current diagnostic practice

Created: 19 Dec 2016, 11:18 a.m.

Panel version: 0.17

Details

Mode of Inheritance

BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Sources

Expert Review Green
BRIDGE Study Tier 1 Gene

Phenotypes

{Bleeding disorder, platelet-type, 13, susceptibility to}, OMIM:614009

OMIM

188070

Clinvar variants

Variants in TBXA2R

Penetrance

Complete

Panels with this gene

History Filter Activity

11 Oct 2022, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: TBXA2R were changed from Thromboxane A2 receptor defect to {Bleeding disorder, platelet-type, 13, susceptibility to}, OMIM:614009

28 Mar 2017, Gel status: 4

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for TBXA2R was changed to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

19 Dec 2016, Gel status: 4

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

Revised 19 December 2016

19 Dec 2016, Gel status: 4

Set Mode of Inheritance, Added New Source

Louise Daugherty (Genomics England Curator)

TBXA2R was added to Inherited bleeding disorderspanel. Source: Expert Review Green Model of inheritance for gene TBXA2R was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

9 Sep 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

TBXA2R was created by ellenmcdonagh