1. Genes and Genomic Entities
  2. GP9

GP9

glycoprotein IX platelet
OMIM: 173515, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Green GP9 in Inherited bleeding disorders

Level 3: Haemostasis disorders
Level 2: Haematological and immunological disorders
Version 1.177

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BRIDGE Study Tier 1 Gene
  • Other
Phenotypes
  • Bernard-Soulier syndrome, type C
  • 231200
  • Bernard-Soulier syndrome
Green GP9 in Bleeding and platelet disorders


Version 3.9
Latest signed off version: v3.0 (22 Mar 2023)

review 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
  • 231200BERNARD-SOULIER SYNDROME
  • 231200.BERNARD-SOULIER SYNDROME
Amber GP9 in Cytopenia - NOT Fanconi anaemia


Version 3.32
Latest signed off version: v3.0 (22 Mar 2023)

review 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 (includes macrothrombocytopenia)
  • Bernard-Soulier syndrome, type C, 231200
Green GP9 in Severe Paediatric Disorders


Version 1.184

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Bernard-Soulier syndrome, type C, 231200