GFI1B

growth factor independent 1B transcriptional repressor
OMIM: 604383, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green GFI1B in Inherited bleeding disorders

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

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BRIDGE Study Tier 1 Gene
Phenotypes
  • Gray platelet-like syndrome (GPS)
  • Bleeding disorder, platelet-type, 17 (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown)
  • 187900
  • Combined alpha-delta platelet storage pool deficiency (BIALLELIC, autosomal or pseudoautosomal)
Green GFI1B in Bleeding and platelet disorders


Version 3.9
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
  • 187900 Bleeding disorder, platelet-type, 17
Green GFI1B 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
  • Bleeding disorder, platelet-type, 17, 187900