FGA

fibrinogen alpha chain
OMIM: 134820, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels
Green FGA in Periodic fever syndromes

Level 3: Multi-system inflammatory/autoimmune disorders
Level 2: Rheumatological disorders
Version 1.33

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Amyloidosis, familial visceral, OMIM:105200
Green FGA in Hereditary systemic amyloidosis


Version 1.21
Latest signed off version: v1.18 (22 Mar 2023)

Component of the following Super Panels:

  • Renal superpanel - broad
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Amyloidosis, familial visceral, OMIM:105200
    Green FGA 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
    • Other
    • Radboud University Medical Center, Nijmegen
    • Expert Review Green
    • BRIDGE Study Tier 1 Gene
    Phenotypes
    • Fibrinogen deficiency
    • Hypodysfibrinogenemia,congenital,616004
    • Dysfibrinogenemia,congenital,616004
    • thrombosis
    • Fibrinogen Dusart
    • dysfibrinogenemia associated with recurrent thrombosis
    • thrombophilia
    • prolonged thrombin clotting
    • Fibrinogen Caracas II
    Red FGA in Autism


    Version 0.36

    review Not set
    Sources
    • Expert Review Red
    • SFARI
    Green FGA in Thrombophilia with a likely monogenic cause


    Version 2.5
    Latest signed off version: v2.2 (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
    • 202400 Afibrinogenemia, congenital
    • 105200 Amyloidosis, familial visceral
    • 616004 Dysfibrinogenemia, congenital
    • 616004 Hypodysfibrinogenemia, congenital
    Green FGA 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
    • 202400 Afibrinogenemia, congenital
    • 616004 Hypodysfibrinogenemia, congenital
    • 105200 Amyloidosis, familial visceral
    • 616004 Dysfibrinogenemia, congenital
    Amber FGA in Unexplained young onset end-stage renal disease


    Version 3.40
    Latest signed off version: v3.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Renal superpanel - broad
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Amber
    Phenotypes
    • Amyloidosis, familial visceral, OMIM:105200
    Tags
    • Q4_23_promote_green
    Green FGA 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
    • Dysfibrinogenemia, congenital, 616004
    • Hypodysfibrinogenemia, congenital, 616004
    • Amyloidosis, familial visceral, 105200
    • Afibrinogenemia, congenital, 202400