Inherited bleeding disorders
Gene: TBXA2R
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
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
Phenotypes for gene: TBXA2R were changed from Thromboxane A2 receptor defect to {Bleeding disorder, platelet-type, 13, susceptibility to}, OMIM:614009
Mode of inheritance for TBXA2R was changed to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Revised 19 December 2016
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
TBXA2R was created by ellenmcdonagh
TBXA2R was added to Inherited bleeding disorderspanel. Sources: BRIDGE Study Tier 1 Gene