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Bleeding and platelet disorders v0.69 | COL3A1 |
Louise Daugherty commented on gene: COL3A1: Discussed further with the GMS Haematology Specialist Test Group at workshop 2nd July 2019, it was agreed that Carl Fratter would review the evidence on COL3A1 by contacting their Thrombogenomics team to ask if they are able to provide any information on their experience, as they have included these genes in their panel. Gene rating to be confirmed when group has this information. Carl Fratter has since highlighted a report (PMID: 30690834) with a family with COL3A1 who presented with bruising (prepositus/family 3), noting it’s complicated by the fact that they are reporting it because of a VWF variant of uncertain significance (which is quite common in the general population, and so perhaps not likely to be very significant), but does appear to be an example of COL3A1 related EDS which was not obvious clinically and patient was referred for easy bruising before EDS was diagnosed. Awaiting consensus from the GMS Haematology Specialist Test Group regarding this |
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Bleeding and platelet disorders v0.28 | VWF | Louise Daugherty Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bleeding and platelet disorders v0.28 | VWF | Louise Daugherty commented on gene: VWF: 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: VWF; 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: 193400 von Willebrand disease, type 1, 613554 von Willebrand disease, types 2A, 2B, 2M, and 2N, 277480 von Willibrand disease, type 3; PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bleeding and platelet disorders v0.27 | VWF | Steve Keeney reviewed gene: VWF: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 193400 von Willebrand disease, type 1, 613554 von Willebrand disease, types 2A, 2B, 2M, and 2N, 277480 von Willibrand disease, type 3; 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 | VWF | Louise Daugherty Added phenotypes 613554 von Willebrand disease, types 2A, 2B, 2M, and 2N; 277480 von Willibrand disease, type 3; 193400 von Willebrand disease, type 1 for gene: VWF | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bleeding and platelet disorders v0.24 | VWF | Louise Daugherty Source North West GLH was added to VWF. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bleeding and platelet disorders v0.23 | VWF | Louise Daugherty commented on gene: VWF: 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: VWF; 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: 193400 von Willebrand disease, type 1;613554 von Willebrand disease, types 2A, 2B, 2M, and 2N; 277480 von Willibrand disease, type 3; PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bleeding and platelet disorders v0.22 | VWF | Mandy nesbitt reviewed gene: VWF: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; 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 | VWF | Louise Daugherty Added phenotypes 613554 von Willebrand disease, types 2A, 2B, 2M, and 2N; 277480 von Willibrand disease, type 3; 193400 von Willebrand disease, type 1 for gene: VWF | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bleeding and platelet disorders v0.19 | VWF | Louise Daugherty Source Yorkshire and North East GLH was added to VWF. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bleeding and platelet disorders v0.14 | VWF | Louise Daugherty commented on gene: VWF: 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: VWF; 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: 193400 von Willebrand disease, type 1, 613554 von Willebrand disease, types 2A, 2B, 2M, and 2N, 277480 von Willibrand disease, type 3; PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bleeding and platelet disorders v0.10 | VWF | Louise Daugherty commented on gene: VWF: 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: VWF; 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: 193400 von Willebrand disease, type 1, 613554 von Willebrand disease, types 2A, 2B, 2M, and 2N, 277480 von Willibrand disease, type 3; PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bleeding and platelet disorders v0.9 | VWF | Michael Mitchell reviewed gene: VWF: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 193400 von Willebrand disease, type 1, 613554 von Willebrand disease, types 2A, 2B, 2M, and 2N, 277480 von Willibrand disease, type 3; 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 | VWF | Louise Daugherty Added phenotypes 613554 von Willebrand disease, types 2A, 2B, 2M, and 2N; 277480 von Willibrand disease, type 3; 193400 von Willebrand disease, type 1 for gene: VWF | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bleeding and platelet disorders v0.7 | VWF | Louise Daugherty Source London South GLH was added to VWF. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bleeding and platelet disorders v0.6 | VWF | Louise Daugherty reviewed gene: VWF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bleeding and platelet disorders v0.5 | VWF | Carl Fratter reviewed gene: VWF: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bleeding and platelet disorders v0.4 | VWF | Louise Daugherty Source NHS GMS was added to VWF. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bleeding and platelet disorders v0.3 | VWF |
Louise Daugherty Source Expert Review Green was added to VWF. Mode of inheritance for gene VWF was changed from to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Added phenotypes 613554 von Willebrand disease, types 2A, 2B, 2M, and 2N; 277480 von Willibrand disease, type 3; 193400 von Willebrand disease, type 1 for gene: VWF Publications for gene VWF were changed from to 16985174; 23407766; 28971901 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Bleeding and platelet disorders v0.2 | VWF |
Louise Daugherty gene: VWF was added gene: VWF was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: VWF was set to |