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Thrombophilia with a likely monogenic cause v1.12 PROS1 Arina Puzriakova Phenotypes for gene: PROS1 were changed from 612336 Thrombophilia due to protein S deficiency, autosomal dominant; 614514 Thrombophilia due to protein S deficiency, autosomal recessive to Thrombophilia due to protein S deficiency, autosomal dominant, OMIM:612336; Thrombophilia due to protein S deficiency, autosomal recessive, OMIM:614514
Thrombophilia with a likely monogenic cause v0.34 PROS1 Louise Daugherty commented on gene: PROS1: 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: PROS1; 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, autosomal or pseudoautosomal; Phenotypes: 612336 Thrombophilia due to protein S deficiency, autosomal dominant, 614514 Thrombophilia due to protein S deficiency, autosomal recessive; PMID(s): none submitted
Thrombophilia with a likely monogenic cause v0.33 PROS1 Steve Keeney reviewed gene: PROS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 612336 Thrombophilia due to protein S deficiency, autosomal dominant, 614514 Thrombophilia due to protein S deficiency, autosomal recessive; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Thrombophilia with a likely monogenic cause v0.32 PROS1 Louise Daugherty Added phenotypes 612336 Thrombophilia due to protein S deficiency, autosomal dominant; 614514 Thrombophilia due to protein S deficiency, autosomal recessive for gene: PROS1
Thrombophilia with a likely monogenic cause v0.30 PROS1 Louise Daugherty Source North West GLH was added to PROS1.
Thrombophilia with a likely monogenic cause v0.29 PROS1 Louise Daugherty commented on gene: PROS1: 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: PROS1; 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, autosomal or pseudoautosomal; Phenotypes: 612336 Thrombophilia due to protein S deficiency, autosomal dominant;614514 Thrombophilia due to protein S deficiency, autosomal recessive; PMID(s): none submitted
Thrombophilia with a likely monogenic cause v0.28 PROS1 Mandy nesbitt reviewed gene: PROS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 612336 Thrombophilia due to protein S deficiency, autosomal dominant, 614514 Thrombophilia due to protein S deficiency, autosomal recessive; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Thrombophilia with a likely monogenic cause v0.27 PROS1 Louise Daugherty Added phenotypes 612336 Thrombophilia due to protein S deficiency, autosomal dominant; 614514 Thrombophilia due to protein S deficiency, autosomal recessive for gene: PROS1
Thrombophilia with a likely monogenic cause v0.25 PROS1 Louise Daugherty Source Yorkshire and North East GLH was added to PROS1.
Thrombophilia with a likely monogenic cause v0.12 PROS1 Louise Daugherty commented on gene: PROS1: 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: PROS1; 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: 612336 Thrombophilia due to protein S deficiency, autosomal dominant;614514 Thrombophilia due to protein S deficiency, autosomal recessive; PMID(s): none submitted
Thrombophilia with a likely monogenic cause v0.11 PROS1 Michael Mitchell reviewed gene: PROS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 612336 Thrombophilia due to protein S deficiency, autosomal dominant, 614514 Thrombophilia due to protein S deficiency, autosomal recessive; 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 PROS1 Louise Daugherty Added phenotypes 612336 Thrombophilia due to protein S deficiency, autosomal dominant; 614514 Thrombophilia due to protein S deficiency, autosomal recessive for gene: PROS1
Thrombophilia with a likely monogenic cause v0.8 PROS1 Louise Daugherty Source London South GLH was added to PROS1.
Thrombophilia with a likely monogenic cause v0.6 PROS1 Louise Daugherty reviewed gene: PROS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Thrombophilia with a likely monogenic cause v0.5 PROS1 Carl Fratter reviewed gene: PROS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Thrombophilia with a likely monogenic cause v0.4 PROS1 Louise Daugherty Source NHS GMS was added to PROS1.
Thrombophilia with a likely monogenic cause v0.3 PROS1 Louise Daugherty Source Expert Review Green was added to PROS1.
Mode of inheritance for gene PROS1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes 612336 Thrombophilia due to protein S deficiency, autosomal dominant; 614514 Thrombophilia due to protein S deficiency, autosomal recessive for gene: PROS1
Rating Changed from Red List (low evidence) to Green List (high evidence)
Thrombophilia with a likely monogenic cause v0.2 PROS1 Louise Daugherty gene: PROS1 was added
gene: PROS1 was added to Thrombophilia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: PROS1 was set to