Inherited bleeding disorders
Gene: ITGA2BComment on publications: added publications to support associated phenotypesCreated: 26 Jul 2017, 4:17 p.m.
Comment on publications: added publication to support change in the MOI. MacroTP (BDPLT16) AD (OMIM 187800)Created: 26 Jul 2017, 4:04 p.m.
Comment on mode of inheritance: changed MOI due to additional associated phenotype with different MOICreated: 26 Jul 2017, 4:01 p.m.
Comment on phenotypes: added additional phenotype and MOICreated: 26 Jul 2017, 4 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glanzmann thrombasthenia
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glanzmann thrombasthenia
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for ITGA2B were set to Glanzmann thrombasthenia (BIALLELIC, autosomal or pseudoautosomal); 273800; Bleeding disorder, platelet-type, 16, autosomal dominant (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ); 187800; BDPLT16; Congenital macrothrombocytopenia
Publications for ITGA2B were set to 2014236;1702098; 8282784;8704171;18065693;21454453;9834222
Phenotypes for ITGA2B were set to Glanzmann thrombasthenia (AR); 273800; Bleeding disorder, platelet-type, 16, autosomal dominant (AD); 187800; BDPLT16;Congenital macrothrombocytopenia
Phenotypes for ITGA2B were set to Glanzmann thrombasthenia (AR); 273800; Bleeding disorder, platelet-type, 16, autosomal dominant (AD); 187800; congenital macrothrombocytopenia
Publications for ITGA2B were set to 18065693
Mode of inheritance for ITGA2B was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for ITGA2B were set to Glanzmann thrombasthenia (AR);273800;Bleeding disorder, platelet-type, 16, autosomal dominant (AD);187800
Revised 19 December 2016
ITGA2B was added to Inherited bleeding disorderspanel. Source: Expert Review Green
ITGA2B was added to Inherited bleeding disorderspanel. Sources: BRIDGE Study Tier 1 Gene
ITGA2B was created by ellenmcdonagh