Activity

Filter

Cancel
Date Panel Item Activity
36 actions
Thrombophilia with a likely monogenic cause v1.17 PROCR Arina Puzriakova Publications for gene: PROCR were set to
Thrombophilia with a likely monogenic cause v1.11 PROC Arina Puzriakova Phenotypes for gene: PROC were changed from 612304 Thrombophilia due to protein C deficiency, autosomal recessive; 176860 Thrombophilia due to protein C deficiency, autosomal dominant to Thrombophilia due to protein C deficiency, autosomal recessive, OMIM:612304; Thrombophilia due to protein C deficiency, autosomal dominant, OMIM:176860
Thrombophilia with a likely monogenic cause v0.37 PROCR Louise Daugherty commented on gene: PROCR: Follow up email correspondence with Patricia Bignell 13th March (webex 8.03.19 WWMGLH comments v1.doc), on behalf of Wessex and the West Midlands GLH for the GMS Haematology specialist test group, suggested rating Red
Thrombophilia with a likely monogenic cause v0.36 PROCR Louise Daugherty Source Wessex and West Midlands GLH was added to PROCR.
Thrombophilia with a likely monogenic cause v0.35 PROCR PATRICIA BIGNELL reviewed gene: PROCR: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Thrombophilia with a likely monogenic cause v0.34 PROCR Louise Daugherty commented on gene: PROCR: 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: PROCR; Suggested initial gene rating: I don't know; 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: none submitted; PMID(s): none submitted
Thrombophilia with a likely monogenic cause v0.34 PROC Louise Daugherty commented on gene: PROC: 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: PROC; 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: 176860 Thrombophilia due to protein C deficiency, autosomal dominant, 612304 Thrombophilia due to protein C deficiency, autosomal recessive; PMID(s): none submitted
Thrombophilia with a likely monogenic cause v0.33 PROCR Steve Keeney reviewed gene: PROCR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; 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 v0.33 PROC Steve Keeney reviewed gene: PROC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 176860 Thrombophilia due to protein C deficiency, autosomal dominant, 612304 Thrombophilia due to protein C deficiency, autosomal recessive; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Thrombophilia with a likely monogenic cause v0.32 PROC Louise Daugherty Added phenotypes 612304 Thrombophilia due to protein C deficiency, autosomal recessive; 176860 Thrombophilia due to protein C deficiency, autosomal dominant for gene: PROC
Thrombophilia with a likely monogenic cause v0.30 PROCR Louise Daugherty Source North West GLH was added to PROCR.
Thrombophilia with a likely monogenic cause v0.30 PROC Louise Daugherty Source North West GLH was added to PROC.
Thrombophilia with a likely monogenic cause v0.29 PROCR Louise Daugherty commented on gene: PROCR: 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: PROCR; Suggested intial gene rating: I don't know; 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: Thrombophilia; PMID(s): none submitted
Thrombophilia with a likely monogenic cause v0.29 PROC Louise Daugherty commented on gene: PROC: 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: PROC; 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: 176860 Thrombophilia due to protein C deficiency, autosomal dominant;612304 Thrombophilia due to protein C deficiency, autosomal recessive; PMID(s): none submitted
Thrombophilia with a likely monogenic cause v0.28 PROCR Mandy nesbitt reviewed gene: PROCR: Rating: AMBER; Mode of pathogenicity: ; Publications: 24051141; Phenotypes: ?Thrombophilia; 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 v0.28 PROC Mandy nesbitt reviewed gene: PROC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 176860 Thrombophilia due to protein C deficiency, autosomal dominant, 612304 Thrombophilia due to protein C deficiency, autosomal recessive; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Thrombophilia with a likely monogenic cause v0.27 PROCR Louise Daugherty Added phenotypes ?Thrombophilia for gene: PROCR
Thrombophilia with a likely monogenic cause v0.27 PROC Louise Daugherty Added phenotypes 612304 Thrombophilia due to protein C deficiency, autosomal recessive; 176860 Thrombophilia due to protein C deficiency, autosomal dominant for gene: PROC
Thrombophilia with a likely monogenic cause v0.25 PROCR Louise Daugherty Source Yorkshire and North East GLH was added to PROCR.
Thrombophilia with a likely monogenic cause v0.25 PROC Louise Daugherty Source Yorkshire and North East GLH was added to PROC.
Thrombophilia with a likely monogenic cause v0.20 PROCR Louise Daugherty Mode of inheritance for gene: PROCR was changed from to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Thrombophilia with a likely monogenic cause v0.19 PROCR Louise Daugherty Classified gene: PROCR as Amber List (moderate evidence)
Thrombophilia with a likely monogenic cause v0.19 PROCR Louise Daugherty Gene: procr has been classified as Amber List (Moderate Evidence).
Thrombophilia with a likely monogenic cause v0.12 PROCR Louise Daugherty reviewed gene: PROCR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Thrombophilia with a likely monogenic cause v0.12 PROC Louise Daugherty commented on gene: PROC: 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: PROC; 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: 176860 Thrombophilia due to protein C deficiency, autosomal dominant;612304 Thrombophilia due to protein C deficiency, autosomal recessive; PMID(s): none submitted
Thrombophilia with a likely monogenic cause v0.11 PROCR Michael Mitchell reviewed gene: PROCR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; 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 v0.11 PROC Michael Mitchell reviewed gene: PROC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 176860 Thrombophilia due to protein C deficiency, autosomal dominant, 612304 Thrombophilia due to protein C 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 PROC Louise Daugherty Added phenotypes 612304 Thrombophilia due to protein C deficiency, autosomal recessive; 176860 Thrombophilia due to protein C deficiency, autosomal dominant for gene: PROC
Thrombophilia with a likely monogenic cause v0.9 PROCR Louise Daugherty Source NHS GMS was added to PROCR.
Thrombophilia with a likely monogenic cause v0.8 PROCR Louise Daugherty gene: PROCR was added
gene: PROCR was added to Thrombophilia. Sources: London South GLH
Mode of inheritance for gene: PROCR was set to
Thrombophilia with a likely monogenic cause v0.8 PROC Louise Daugherty Source London South GLH was added to PROC.
Thrombophilia with a likely monogenic cause v0.6 PROC Louise Daugherty reviewed gene: PROC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Thrombophilia with a likely monogenic cause v0.5 PROC Carl Fratter reviewed gene: PROC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Thrombophilia with a likely monogenic cause v0.4 PROC Louise Daugherty Source NHS GMS was added to PROC.
Thrombophilia with a likely monogenic cause v0.3 PROC Louise Daugherty Source Expert Review Green was added to PROC.
Mode of inheritance for gene PROC was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes 612304 Thrombophilia due to protein C deficiency, autosomal recessive; 176860 Thrombophilia due to protein C deficiency, autosomal dominant for gene: PROC
Rating Changed from Red List (low evidence) to Green List (high evidence)
Thrombophilia with a likely monogenic cause v0.2 PROC Louise Daugherty gene: PROC was added
gene: PROC was added to Thrombophilia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: PROC was set to