Activity

Filter

Cancel
Date Panel Item Activity
20 actions
Bleeding and platelet disorders v1.42 F13B Arina Puzriakova Phenotypes for gene: F13B were changed from 613235 Factor XIII deficiency to Factor XIIIB deficiency, OMIM:613235
Bleeding and platelet disorders v0.28 F13B Louise Daugherty Deleted their comment
Bleeding and platelet disorders v0.28 F13B Louise Daugherty commented on gene: F13B: 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: F13B; Suggested initial 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: 613235 Factor XIII deficiency; PMID(s): none submitted
Bleeding and platelet disorders v0.27 F13B Steve Keeney reviewed gene: F13B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 613235 Factor XIII deficiency; 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 v0.26 F13B Louise Daugherty Added phenotypes 613235 Factor XIII deficiency for gene: F13B
Bleeding and platelet disorders v0.24 F13B Louise Daugherty Source North West GLH was added to F13B.
Bleeding and platelet disorders v0.23 F13B Louise Daugherty commented on gene: F13B: 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: F13B; 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: 613235 Factor XIII deficiency; PMID(s): none submitted
Bleeding and platelet disorders v0.22 F13B Mandy nesbitt reviewed gene: F13B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 613235 Factor XIII deficiency; 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 F13B Louise Daugherty Added phenotypes 613235 Factor XIII deficiency for gene: F13B
Bleeding and platelet disorders v0.19 F13B Louise Daugherty Source Yorkshire and North East GLH was added to F13B.
Bleeding and platelet disorders v0.14 F13B Louise Daugherty commented on gene: F13B: 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: F13B; 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: 613235 Factor XIII deficiency; PMID(s): none submitted
Bleeding and platelet disorders v0.10 F13B Louise Daugherty commented on gene: F13B: 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: F13B; 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: 613235 Factor XIII deficiency; PMID(s): none submitted
Bleeding and platelet disorders v0.9 F13B Michael Mitchell reviewed gene: F13B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 613235 Factor XIII deficiency; 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 F13B Louise Daugherty Added phenotypes 613235 Factor XIII deficiency for gene: F13B
Bleeding and platelet disorders v0.7 F13B Louise Daugherty Source London South GLH was added to F13B.
Bleeding and platelet disorders v0.6 F13B Louise Daugherty reviewed gene: F13B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.5 F13B Carl Fratter reviewed gene: F13B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.4 F13B Louise Daugherty Source NHS GMS was added to F13B.
Bleeding and platelet disorders v0.3 F13B Louise Daugherty Source Expert Review Green was added to F13B.
Mode of inheritance for gene F13B was changed from to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Added phenotypes 613235 Factor XIII deficiency for gene: F13B
Publications for gene F13B were changed from to 11313256; 8324218; 20331752
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.2 F13B Louise Daugherty gene: F13B was added
gene: F13B was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: F13B was set to