Inherited bleeding disorders
Gene: ITGB3Comment on publications: added publications to support association to phenotype(s)Created: 26 Jul 2017, 4:25 p.m.
Comment on phenotypes: added phenotypesCreated: 26 Jul 2017, 4:21 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Glanzmann thrombasthenia
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Glanzmann thrombasthenia
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for ITGB3 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
Phenotypes for ITGB3 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 ITGB3 were set to 18065693;1371279;1438206;1430225;19336737
Phenotypes for ITGB3 were set to Glanzmann thrombasthenia (AR); 273800; Bleeding disorder, platelet-type, 16, autosomal dominant (AD); 187800; BDPLT16; Congenital macrothrombocytopenia
Mode of inheritance for ITGB3 was changed to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Revised 19 December 2016
ITGB3 was added to Inherited bleeding disorderspanel. Source: Expert Review Green Model of inheritance for gene ITGB3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
ITGB3 was added to Inherited bleeding disorderspanel. Sources: BRIDGE Study Tier 1 Gene
ITGB3 was created by ellenmcdonagh