GP1BA

glycoprotein Ib platelet alpha subunit
OMIM: 606672, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green GP1BA in Inherited bleeding disorders

Level 3: Haemostasis disorders
Level 2: Haematological and immunological disorders
Version 1.172

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 2.72
Latest signed off version: v2.2 (19 Feb 2020)

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 1.43
Latest signed off version: v1.2 (3 Mar 2020)

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 1.70
Latest signed off version: v1.29 (15 Oct 2020)

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 2.285
Latest signed off version: v2.195 (5 Aug 2021)

review Not set
Sources
  • NHS GMS
  • Expert Review Red
Phenotypes
  • Bernard-Soulier syndrome, type A1 (recessive), 231200

Green GP1BA in Severe Paediatric Disorders


Version 1.127

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