Thrombophilia with a likely monogenic cause
Gene: F2
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 group.Created: 18 Feb 2019, 1:40 p.m.
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
Variants in this GENE are reported as part of current diagnostic practice
Gene rating submitted by Mandy Nesbitt SheffieldDiagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North EastGLH for the GMS Haematology specialist test groupCreated: 14 Feb 2019, 1:57 p.m.
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
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, 2:43 p.m.
Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
613679 Factor II deficiency
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: 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 submittedCreated: 18 Feb 2019, 1:51 p.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: 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 submittedCreated: 14 Feb 2019, 2:01 p.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: 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 submittedCreated: 7 Feb 2019, 2:49 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: 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): 19598065; 23852823Created: 5 Feb 2019, 7:23 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, 7:23 p.m.
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes 188050 Thrombophilia due to thrombin defect; 613679 Hypoprothrombinemia; 613679 Dysprothrombinemia for gene: F2
Source North West GLH was added to F2.
Added phenotypes 188050 Thrombophilia due to thrombin defect; 613679 Hypoprothrombinemia; 613679 Dysprothrombinemia for gene: F2
Source Yorkshire and North East GLH was added to F2.
Added phenotypes 613679 Factor II deficiency for gene: F2
Source London South GLH was added to F2.
Source NHS GMS was added to F2.
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)
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