Thrombophilia with a likely monogenic cause
Gene: PLG
Gene rating submitted 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.Created: 18 Feb 2019, 1:40 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
217090 Plasminogen deficiency, type I
Gene rating submitted by Mandy Nesbitt SheffieldDiagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North EastGLH for the GMS Haematology specialist test groupCreated: 14 Feb 2019, 1:57 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
217090 Plasminogen deficiency, type I
Gene rating submitted by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group.Created: 7 Feb 2019, 2:43 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
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 submittedCreated: 18 Feb 2019, 1:51 p.m.
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 submittedCreated: 14 Feb 2019, 2:01 p.m.
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 submittedCreated: 7 Feb 2019, 2:49 p.m.
Initial gene list (Consensus Genes for Panels 17.12.18_Haem_WWMGLH_v3.xlxs) collated by Carl Fratter Oxford Medical Genetics Laboratories January 2019 on behalf of Wessex and the West Midlands 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? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 217090 Plasminogen deficiency, type I; PMID(s): 16849641; 27193180; 25674820Created: 5 Feb 2019, 7:23 p.m.
Gene rating submitted by Carl Fratter Oxford Medical Genetics Laboratories January 2019 on behalf of Wessex and the West Midlands GLH for the GMS Haematology specialist test group.Created: 5 Feb 2019, 7:23 p.m.
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: PLG were changed from 217090 Plasminogen deficiency, type I to Plasminogen deficiency, type I, OMIM:217090; Dysplasminogenemia, OMIM:217090
Added phenotypes 217090 Plasminogen deficiency, type I for gene: PLG
Source North West GLH was added to PLG.
Added phenotypes 217090 Plasminogen deficiency, type I for gene: PLG
Source Yorkshire and North East GLH was added to PLG.
Source London South GLH was added to PLG.
Source NHS GMS was added to PLG.
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)
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