Activity
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27 actions
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| Thrombophilia with a likely monogenic cause v2.9 | PLG |
Eleanor Williams Tag Q2_25_expert_review was removed from gene: PLG. Tag Q2_25_ demote_amber was removed from gene: PLG. |
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| Thrombophilia with a likely monogenic cause v2.9 | PLG | Eleanor Williams reviewed gene: PLG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thrombophilia with a likely monogenic cause v2.8 | PLG |
Eleanor Williams Source Expert Review Amber was added to PLG. Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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| Thrombophilia with a likely monogenic cause v2.7 | PLG |
Arina Puzriakova changed review comment from: Comment on list classification: PLG deficiency causes hypoplasminogenemia characterised by chronic pseudomembranous lesions consisting of fibrin deposition and inflammation, with ligneous conjunctivitis being the predominant clinical feature. Predisposition to thrombosis was indicated in knockout mice which develop spontaneous, severe thromboses in multiple organs (PMID: 7705657). However, studies in humans have shown that severe PLG deficiency is rare and only weakly associated with thrombosis, largely in combination with other risk factors (PMID: 9684804; 12850227; 16849641; 27976734). Overall the evidence indicates that this gene should be demoted from Green to Amber/Red at the next GMS panel update.; to: Comment on list classification: PLG deficiency causes hypoplasminogenemia characterised by chronic pseudomembranous lesions consisting of fibrin deposition and inflammation, with ligneous conjunctivitis being the predominant clinical feature. Predisposition to thrombosis was indicated in knockout mice which develop spontaneous, severe thromboses in multiple organs (PMID: 7705657). However, studies in humans have shown that severe PLG deficiency is rare and only weakly associated with thrombosis, largely in combination with other risk factors (PMID: 9684804; 12850227; 16849641; 27976734). Overall the evidence indicates that this gene should be demoted from Green to Amber/Red at the next GMS panel update. |
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| Thrombophilia with a likely monogenic cause v2.7 | PLG | Arina Puzriakova Publications for gene: PLG were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thrombophilia with a likely monogenic cause v2.6 | PLG | Arina Puzriakova Classified gene: PLG as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thrombophilia with a likely monogenic cause v2.6 | PLG |
Arina Puzriakova Added comment: Comment on list classification: PLG deficiency causes hypoplasminogenemia characterised by chronic pseudomembranous lesions consisting of fibrin deposition and inflammation, with ligneous conjunctivitis being the predominant clinical feature. Predisposition to thrombosis was indicated in knockout mice which develop spontaneous, severe thromboses in multiple organs (PMID: 7705657). However, studies in humans have shown that severe PLG deficiency is rare and only weakly associated with thrombosis, largely in combination with other risk factors (PMID: 9684804; 12850227; 16849641; 27976734). Overall the evidence indicates that this gene should be demoted from Green to Amber/Red at the next GMS panel update. |
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| Thrombophilia with a likely monogenic cause v2.6 | PLG | Arina Puzriakova Gene: plg has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thrombophilia with a likely monogenic cause v2.5 | PLG |
Arina Puzriakova Tag Q2_25_expert_review tag was added to gene: PLG. Tag Q2_25_ demote_amber tag was added to gene: PLG. |
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| Thrombophilia with a likely monogenic cause v2.5 | PLG | Zornitza Stark reviewed gene: PLG: Rating: AMBER; Mode of pathogenicity: None; Publications: 35244080, 27976734; Phenotypes: Dysplasminogenemia, MIM# 217090; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thrombophilia with a likely monogenic cause v1.20 | PLG | Arina Puzriakova Phenotypes for gene: PLG were changed from 217090 Plasminogen deficiency, type I to Plasminogen deficiency, type I, OMIM:217090; Dysplasminogenemia, OMIM:217090 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thrombophilia with a likely monogenic cause v0.34 | PLG | Louise Daugherty commented on gene: PLG: 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: PLG; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 217090 Plasminogen deficiency, type I; PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thrombophilia with a likely monogenic cause v0.33 | PLG | Steve Keeney reviewed gene: PLG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 217090 Plasminogen deficiency, type I; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thrombophilia with a likely monogenic cause v0.32 | PLG | Louise Daugherty Added phenotypes 217090 Plasminogen deficiency, type I for gene: PLG | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thrombophilia with a likely monogenic cause v0.30 | PLG | Louise Daugherty Source North West GLH was added to PLG. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thrombophilia with a likely monogenic cause v0.29 | PLG | Louise Daugherty commented on gene: PLG: 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: PLG; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 217090 Plasminogen deficiency, type I; PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thrombophilia with a likely monogenic cause v0.28 | PLG | Mandy nesbitt reviewed gene: PLG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 217090 Plasminogen deficiency, type I; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thrombophilia with a likely monogenic cause v0.27 | PLG | Louise Daugherty Added phenotypes 217090 Plasminogen deficiency, type I for gene: PLG | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thrombophilia with a likely monogenic cause v0.25 | PLG | Louise Daugherty Source Yorkshire and North East GLH was added to PLG. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thrombophilia with a likely monogenic cause v0.12 | PLG | Louise Daugherty commented on gene: PLG: 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: PLG; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: not submitted; PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thrombophilia with a likely monogenic cause v0.11 | PLG | Michael Mitchell reviewed gene: PLG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thrombophilia with a likely monogenic cause v0.8 | PLG | Louise Daugherty Source London South GLH was added to PLG. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thrombophilia with a likely monogenic cause v0.6 | PLG | Louise Daugherty reviewed gene: PLG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thrombophilia with a likely monogenic cause v0.5 | PLG | Carl Fratter reviewed gene: PLG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thrombophilia with a likely monogenic cause v0.4 | PLG | Louise Daugherty Source NHS GMS was added to PLG. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thrombophilia with a likely monogenic cause v0.3 | PLG |
Louise Daugherty Source Expert Review Green was added to PLG. Mode of inheritance for gene PLG was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes 217090 Plasminogen deficiency, type I for gene: PLG Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Thrombophilia with a likely monogenic cause v0.2 | PLG |
Louise Daugherty gene: PLG was added gene: PLG was added to Thrombophilia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: PLG was set to |
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