Bleeding and platelet disorders
Gene: FGB
Gene rating submitted by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test groupCreated: 18 Feb 2019, 11:23 a.m.
Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
202400 Afibrinogenemia, congenital, Hypofibrinogenemia, congenital; 616004 Dysfibrinogenemia, congenital
Gene rating submitted by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group.Created: 13 Feb 2019, 11:32 a.m.
Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
202400 Afibrinogenemia, congenital, Hypofibrinogenemia, congenital, 616004 Dysfibrinogenemia, congenital
Variants in this GENE are reported as part of current diagnostic practice
Gene rating submitted by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group.Created: 7 Feb 2019, 1:21 p.m.
Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
202400 Afibrinogenemia, congenital, Hypofibrinogenemia, congenital, 616004 Dysfibrinogenemia, congenital
Variants in this GENE are reported as part of current diagnostic practice
Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: FGB; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Phenotypes: 202400 Afibrinogenemia, congenital, Hypofibrinogenemia, congenital, 616004 Dysfibrinogenemia, congenital; PMID(s): none submittedCreated: 18 Feb 2019, 11:28 a.m.
Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: FGB; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Phenotypes: 202400 Afibrinogenemia, congenital, Hypofibrinogenemia, congenital, 616004 Dysfibrinogenemia, congenital; PMID(s): none submittedCreated: 13 Feb 2019, 11:34 a.m.
Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: FGB; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Phenotypes: 202400 Afibrinogenemia, congenital, Hypofibrinogenemia, congenital, 616004 Dysfibrinogenemia, congenital; PMID(s): none submittedCreated: 7 Feb 2019, 1:28 p.m.
Initial gene list (Consensus Genes for Panels 17.12.18_Haem_WWMGLH_v3.xlxs) collated by Carl Fratter Oxford Medical Genetics Laboratories January 2019 on behalf of Wessex and the West Midlands GLH for the GMS Haematology specialist test group. Gene Symbol submitted: FGB; Suggested intial gene rating: Green List (high evidence); Are variants in this gene as part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Phenotypes: 202400 Afibrinogenemia, congenital; 202400 Hypofibrinogenemia, congenital; 616004 Dysfibrinogenemia, congenital; PMID(s): 19404555; 12161363; 1565641Created: 5 Feb 2019, 1:26 p.m.
Gene rating submitted by Carl Fratter Oxford Medical Genetics Laboratories January 2019 on behalf of Wessex and the West Midlands GLH for the GMS Haematology specialist test group.Created: 5 Feb 2019, 11:19 a.m.
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes 202400 Afibrinogenemia, congenital, Hypofibrinogenemia, congenital; 616004 Dysfibrinogenemia, congenital for gene: FGB
Source North West GLH was added to FGB.
Added phenotypes 202400 Afibrinogenemia, congenital, Hypofibrinogenemia, congenital, 616004 Dysfibrinogenemia, congenital for gene: FGB
Source Yorkshire and North East GLH was added to FGB.
Added phenotypes 202400 Afibrinogenemia, congenital, Hypofibrinogenemia, congenital; 616004 Dysfibrinogenemia, congenital for gene: FGB
Source London South GLH was added to FGB.
Source NHS GMS was added to FGB.
Source Expert Review Green was added to FGB. Mode of inheritance for gene FGB was changed from to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Added phenotypes 202400 Afibrinogenemia, congenital; 202400 Hypofibrinogenemia, congenital; 616004 Dysfibrinogenemia, congenital for gene: FGB Publications for gene FGB were changed from to 1565641; 12161363; 19404555 Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: FGB was added gene: FGB was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: FGB was set to