GP1BA

glycoprotein Ib platelet alpha subunit
OMIM: 606672, Gene2Phenotype

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Green GP1BA in Inherited bleeding disorders Level 3: Haemostasis disorders Level 2: Haematological and immunological disorders Version 1.176	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green BRIDGE Study Tier 1 Gene Other Phenotypes Bernard-Soulier syndrome, type A1 (recessive) 231200 Platelet-type von Willebrand disease Bernard-Soulier syndrome Bernard-Soulier syndrome (BIALLELIC, autosomal or pseudoautosomal) Platelet-type von Willebrand disease (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown)
Red GP1BA in Optic neuropathy Level 3: Posterior segment abnormalities Level 2: Ophthalmological disorders Version 4.30 Latest signed off version: v4.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes {Nonarteritic anterior ischemic optic neuropathy, susceptibility to}
Green GP1BA in Bleeding and platelet disorders Version 3.8 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 BSS 231200 BERNARD-SOULIER SYNDROME 177820 von Willebrand disease, platelet-type 231200BERNARD-SOULIER SYNDROME
Amber GP1BA in Cytopenia - NOT Fanconi anaemia Version 3.31 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert review Amber North West GLH Yorkshire and North East GLH Wessex and West Midlands GLH NHS GMS London South GLH Phenotypes Bernard-Soulier syndrome, type A1, 231200 Mild macrothrombocytopenia Platelet type VWD, mild thrombocytopenia
Red GP1BA in Retinal disorders Level 3: Posterior segment abnormalities Level 2: Ophthalmological disorders Version 4.83 Latest signed off version: v4.0 (22 Mar 2023)	review	Not set	Sources NHS GMS Expert Review Red Phenotypes Bernard-Soulier syndrome, type A1 (recessive), 231200
Green GP1BA in Severe Paediatric Disorders Version 1.184	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Bernard-Soulier syndrome, type A2 (dominant), 153670 Bernard-Soulier syndrome, type A1 (recessive), 231200 von Willebrand disease, platelet-type, 177820