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Thrombophilia with a likely monogenic cause v1.19 MAST2 Arina Puzriakova gene: MAST2 was added
gene: MAST2 was added to Thrombophilia. Sources: Literature
Mode of inheritance for gene: MAST2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MAST2 were set to 33465109
Phenotypes for gene: MAST2 were set to Venous thromboembolism; Thrombophilia
Review for gene: MAST2 was set to RED
Added comment: - PMID: 33465109 (2021) - Single missense variant (p.Arg89Gln) identified in a French family with venous thrombosis and thrombophilia. Missense variant reviewed by in silico tools only. MAST2 knockdown was shown to affect regulation of TFP1 and SERPINE1 gene expression, known to regulate the haemostatic properties of endothelial cells. RNAi of MAST2 followed by RNAseq also showed expression changes in many other downstream targets.
Sources: Literature
Thrombophilia with a likely monogenic cause v0.34 SERPINE1 Louise Daugherty commented on gene: SERPINE1: 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: SERPINE1; 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: 613329 Plasminogen activator inhibitor-1 deficiency; PMID(s): none submitted
Thrombophilia with a likely monogenic cause v0.33 SERPINE1 Steve Keeney reviewed gene: SERPINE1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 613329 Plasminogen activator inhibitor-1 deficiency; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Thrombophilia with a likely monogenic cause v0.32 SERPINE1 Louise Daugherty Added phenotypes 613329 Plasminogen activator inhibitor-1 deficiency for gene: SERPINE1
Thrombophilia with a likely monogenic cause v0.30 SERPINE1 Louise Daugherty Source North West GLH was added to SERPINE1.
Thrombophilia with a likely monogenic cause v0.29 SERPINE1 Louise Daugherty commented on gene: SERPINE1: 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: SERPINE1; Suggested intial 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: 613329 Plasminogen activator inhibitor-1 deficiency; PMID(s): none submitted
Thrombophilia with a likely monogenic cause v0.28 SERPINE1 Mandy nesbitt reviewed gene: SERPINE1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 613329 Plasminogen activator inhibitor-1 deficiency; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Thrombophilia with a likely monogenic cause v0.27 SERPINE1 Louise Daugherty Added phenotypes 613329 Plasminogen activator inhibitor-1 deficiency for gene: SERPINE1
Thrombophilia with a likely monogenic cause v0.25 SERPINE1 Louise Daugherty Source Yorkshire and North East GLH was added to SERPINE1.
Thrombophilia with a likely monogenic cause v0.12 SERPINE1 Louise Daugherty commented on gene: SERPINE1: 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: SERPINE1; Suggested intial 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, autosomal or pseudoautosomal; Phenotypes: 613329 Plasminogen activator inhibitor-1 deficiency; PMID(s): none submitted
Thrombophilia with a likely monogenic cause v0.11 SERPINE1 Michael Mitchell reviewed gene: SERPINE1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 613329 Plasminogen activator inhibitor-1 deficiency; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Thrombophilia with a likely monogenic cause v0.10 SERPINE1 Louise Daugherty Added phenotypes 613329 Plasminogen activator inhibitor-1 deficiency for gene: SERPINE1
Thrombophilia with a likely monogenic cause v0.8 SERPINE1 Louise Daugherty Source London South GLH was added to SERPINE1.
Thrombophilia with a likely monogenic cause v0.6 SERPINE1 Louise Daugherty reviewed gene: SERPINE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Thrombophilia with a likely monogenic cause v0.5 SERPINE1 Carl Fratter reviewed gene: SERPINE1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Thrombophilia with a likely monogenic cause v0.4 SERPINE1 Louise Daugherty Source NHS GMS was added to SERPINE1.
Thrombophilia with a likely monogenic cause v0.3 SERPINE1 Louise Daugherty Source Expert Review Green was added to SERPINE1.
Mode of inheritance for gene SERPINE1 was changed from to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Added phenotypes 613329 Plasminogen activator inhibitor-1 deficiency for gene: SERPINE1
Rating Changed from Red List (low evidence) to Green List (high evidence)
Thrombophilia with a likely monogenic cause v0.2 SERPINE1 Louise Daugherty gene: SERPINE1 was added
gene: SERPINE1 was added to Thrombophilia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: SERPINE1 was set to