FGB

fibrinogen beta chain
OMIM: 134830, Gene2Phenotype

4 panels

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

Level 3: Haemostasis disorders
Level 2: Haematological and immunological disorders
Version 1.175

review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
  • Other
  • Expert Review Green
  • BRIDGE Study Tier 1 Gene
Phenotypes
  • Fibrinogen deficiency
  • Dysfibrinogenemia,congenital,616004
  • dysbetafibrinogenemia with thrombosis
  • Thrombophilia in association with congenital dysfibrinogenemia
Green FGB in Thrombophilia with a likely monogenic cause


Version 2.5
Latest signed off version: v2.2 (22 Mar 2023)

review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), 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
  • Afibrinogenemia, congenital, OMIM:202400
  • Hypofibrinogenemia, congenital, OMIM:202400
  • Dysfibrinogenemia, congenital, OMIM:616004
  • Thrombophilia, MONDO:0002305
Green FGB in Bleeding and platelet disorders


Version 3.7
Latest signed off version: v3.0 (22 Mar 2023)

review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), 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
  • 202400 Afibrinogenemia, congenital
  • 202400 Afibrinogenemia, congenital, Hypofibrinogenemia, congenital, 616004 Dysfibrinogenemia, congenital
  • 616004 Dysfibrinogenemia, congenital
  • 202400 Hypofibrinogenemia, congenital
  • 202400 Afibrinogenemia, congenital, Hypofibrinogenemia, congenital
Green FGB in Severe Paediatric Disorders


Version 1.182

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Dysfibrinogenemia, congenital, 616004
  • Afibrinogenemia, congenital, 202400
  • Hypofibrinogenemia, congenital, 202400