| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Thrombophilia with a likely monogenic cause v0.34 | F2 | Louise Daugherty commented on gene: F2: 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: F2; 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: 613679 Dysprothrombinemia, 613679 Hypoprothrombinemia, 188050 Thrombophilia due to thrombin defect; PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thrombophilia with a likely monogenic cause v0.33 | F2 | Steve Keeney reviewed gene: F2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 613679 Dysprothrombinemia, 613679 Hypoprothrombinemia, 188050 Thrombophilia due to thrombin defect; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thrombophilia with a likely monogenic cause v0.32 | F2 | Louise Daugherty Added phenotypes 188050 Thrombophilia due to thrombin defect; 613679 Hypoprothrombinemia; 613679 Dysprothrombinemia for gene: F2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thrombophilia with a likely monogenic cause v0.30 | F2 | Louise Daugherty Source North West GLH was added to F2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thrombophilia with a likely monogenic cause v0.29 | F2 | Louise Daugherty commented on gene: F2: 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: F2; 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: 613679 Dysprothrombinemia;613679 Hypoprothrombinemia;188050 Thrombophilia due to thrombin defect; PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thrombophilia with a likely monogenic cause v0.28 | F2 | Mandy nesbitt reviewed gene: F2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 613679 Dysprothrombinemia, 613679 Hypoprothrombinemia, 188050 Thrombophilia due to thrombin defect; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thrombophilia with a likely monogenic cause v0.27 | F2 | Louise Daugherty Added phenotypes 188050 Thrombophilia due to thrombin defect; 613679 Hypoprothrombinemia; 613679 Dysprothrombinemia for gene: F2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thrombophilia with a likely monogenic cause v0.25 | F2 | Louise Daugherty Source Yorkshire and North East GLH was added to F2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thrombophilia with a likely monogenic cause v0.12 | F2 | Louise Daugherty commented on gene: F2: 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: F2; 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: 613679 Factor II deficiency; PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thrombophilia with a likely monogenic cause v0.11 | F2 | Michael Mitchell reviewed gene: F2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 613679 Factor II deficiency; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thrombophilia with a likely monogenic cause v0.10 | F2 | Louise Daugherty Added phenotypes 613679 Factor II deficiency for gene: F2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thrombophilia with a likely monogenic cause v0.8 | F2 | Louise Daugherty Source London South GLH was added to F2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thrombophilia with a likely monogenic cause v0.6 | F2 | Louise Daugherty reviewed gene: F2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thrombophilia with a likely monogenic cause v0.5 | F2 | Carl Fratter reviewed gene: F2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thrombophilia with a likely monogenic cause v0.4 | F2 | Louise Daugherty Source NHS GMS was added to F2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thrombophilia with a likely monogenic cause v0.3 | F2 |
Louise Daugherty Source Expert Review Green was added to F2. Mode of inheritance for gene F2 was changed from to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Added phenotypes 188050 Thrombophilia due to thrombin defect; 613679 Hypoprothrombinemia; 613679 Dysprothrombinemia for gene: F2 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Thrombophilia with a likely monogenic cause v0.2 | F2 |
Louise Daugherty gene: F2 was added gene: F2 was added to Thrombophilia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: F2 was set to |
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