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| Bleeding and platelet disorders v0.28 | FGB | Louise Daugherty Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v0.28 | FGB | Louise Daugherty commented on gene: FGB: 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 submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v0.27 | FGB | Steve Keeney reviewed gene: FGB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 202400 Afibrinogenemia, congenital, Hypofibrinogenemia, congenital, 616004 Dysfibrinogenemia, congenital; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v0.26 | FGB | Louise Daugherty Added phenotypes 202400 Afibrinogenemia, congenital, Hypofibrinogenemia, congenital; 616004 Dysfibrinogenemia, congenital for gene: FGB | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v0.24 | FGB | Louise Daugherty Source North West GLH was added to FGB. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v0.23 | FGB | Louise Daugherty commented on gene: FGB: 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 submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v0.22 | FGB | Mandy nesbitt reviewed gene: FGB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 202400 Afibrinogenemia, congenital, Hypofibrinogenemia, congenital, 616004 Dysfibrinogenemia, congenital; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v0.21 | FGB | Louise Daugherty Added phenotypes 202400 Afibrinogenemia, congenital, Hypofibrinogenemia, congenital, 616004 Dysfibrinogenemia, congenital for gene: FGB | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v0.19 | FGB | Louise Daugherty Source Yorkshire and North East GLH was added to FGB. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v0.14 | FGB | Louise Daugherty commented on gene: FGB: 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 submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v0.10 | FGB | Louise Daugherty commented on gene: FGB: 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 submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v0.9 | FGB | Michael Mitchell reviewed gene: FGB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 202400 Afibrinogenemia, congenital, Hypofibrinogenemia, congenital, 616004 Dysfibrinogenemia, congenital; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v0.8 | FGB | Louise Daugherty Added phenotypes 202400 Afibrinogenemia, congenital, Hypofibrinogenemia, congenital; 616004 Dysfibrinogenemia, congenital for gene: FGB | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v0.7 | FGB | Louise Daugherty Source London South GLH was added to FGB. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v0.6 | FGB | Louise Daugherty reviewed gene: FGB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v0.5 | FGB | Carl Fratter reviewed gene: FGB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v0.4 | FGB | Louise Daugherty Source NHS GMS was added to FGB. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v0.3 | FGB |
Louise Daugherty 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) |
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| Bleeding and platelet disorders v0.2 | FGB |
Louise Daugherty 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 |
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