GP1BB

glycoprotein Ib platelet beta subunit
OMIM: 138720, Gene2Phenotype

4 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 4 panels
Green GP1BB in Inherited bleeding disorders Level 3: Haemostasis disorders Level 2: Haematological and immunological disorders Version 1.178	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green BRIDGE Study Tier 1 Gene Other Phenotypes Bernard-Soulier syndrome, type B, OMIM:231200 Giant platelet disorder, isolated, OMIM:231200 Macrothrombocytopenia
Green GP1BB in Bleeding and platelet disorders Version 3.10 Latest signed off version: v3.0 (22 Mar 2023)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources North West GLH Yorkshire and North East GLH London South GLH NHS GMS Expert Review Green Wessex and West Midlands GLH Phenotypes Bernard-Soulier syndrome, type B, OMIM:231200 Giant platelet disorder, isolated, OMIM:231200 Macrothrombocytopenia
Amber GP1BB in Cytopenia - NOT Fanconi anaemia Version 3.33 Latest signed off version: v3.0 (22 Mar 2023)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Expert review Amber NHS GMS North West GLH London South GLH Yorkshire and North East GLH Wessex and West Midlands GLH Phenotypes Bernard-Soulier syndrome, type B, OMIM:231200 Giant platelet disorder, isolated, OMIM:231200 Macrothrombocytopenia
Green GP1BB in Severe Paediatric Disorders Version 1.184	review	BIALLELIC, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Giant platelet disorder, isolated, 231200 Bernard-Soulier syndrome, type B, 231200