Inherited bleeding disorders
Gene: GP1BBComment on mode of inheritance: PMID:28064200 Evidence for monoallellic inheritance for MacrothrombocytopeniaCreated: 26 Jul 2017, 4:39 p.m.
Comment on phenotypes: added macrothrombocytopenia (AD) PMID: 28064200, evidence for more than three unrelated familiesCreated: 26 Jul 2017, 4:37 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Bernard-Soulier syndrome
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Bernard-Soulier syndrome
Variants in this GENE are reported as part of current diagnostic practice
Sourced from OMIM: http://omim.org/entry/231200Created: 7 Sep 2016, 7:49 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Bernard-Soulier syndrome, type B
Publications for gene: GP1BB were set to 9116284; 10887115; 8703016; 28064200
Phenotypes for gene: GP1BB were changed from Bernard-Soulier syndrome, type B (BIALLELIC, autosomal or pseudoautosomal); Giant platelet disorder, isolated (AR); 231200; Bernard-Soulier syndrome; Macrothrombocytopenia (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown) to Bernard-Soulier syndrome, type B, OMIM:231200; Giant platelet disorder, isolated, OMIM:231200; Macrothrombocytopenia
Phenotypes for GP1BB were set to Bernard-Soulier syndrome, type B (BIALLELIC, autosomal or pseudoautosomal); Giant platelet disorder, isolated (AR); 231200; Bernard-Soulier syndrome; Macrothrombocytopenia (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown)
Publications for GP1BB were set to 9116284; 10887115; 8703016;28064200
Publications for GP1BB were set to 9116284;10887115;8703016;28064200;
Mode of inheritance for GP1BB was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for GP1BB were set to Bernard-Soulier syndrome, type B (AR); Giant platelet disorder, isolated (AR); 231200; Bernard-Soulier syndrome; Macrothrombocytopenia (AD)
Phenotypes for GP1BB were set to Bernard-Soulier syndrome, type B; Giant platelet disorder, isolated; 231200; Bernard-Soulier syndrome;Macrothrombocytopenia
Revised 19 December 2016
GP1BB was added to Inherited bleeding disorderspanel. Source: Expert Review Green
GP1BB was added to Inherited bleeding disorderspanel. Source: BRIDGE Study Tier 1 Gene
Phenotypes for GP1BB were set to Bernard-Soulier syndrome, type B;Giant platelet disorder, isolated;231200
GP1BB was added to Inherited bleeding disorderspanel. Sources: Other
GP1BB was created by ellenmcdonagh