Inherited bleeding disorders

Gene: TBXA2R

Green List (high evidence)

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

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

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
  • Thromboxane A2 receptor defect
OMIM
188070
Clinvar variants
Variants in TBXA2R
Penetrance
Complete
Panels with this gene

History Filter Activity

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

9 Sep 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

TBXA2R was added to Inherited bleeding disorderspanel. Sources: BRIDGE Study Tier 1 Gene