GP1BB

glycoprotein Ib platelet beta subunit
OMIM: 138720, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green GP1BB in Inherited bleeding disorders

Level 3: Haemostasis disorders
Level 2: Haematological and immunological disorders
Version 1.182

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


Level 2: Haematology
Version 4.6
Latest signed off version: v4.0 (30 Apr 2025)

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


Level 2: Haematology
Version 4.32
Latest signed off version: v4.0 (30 Apr 2025)

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