Bleeding and platelet disorders
Gene: SERPINE1
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 groupCreated: 18 Feb 2019, 11:23 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
613329 Plasminogen activator inhibitor-1 deficiency
Gene rating submitted 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.Created: 13 Feb 2019, 11:32 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
613329 Plasminogen activator inhibitor-1 deficiency
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 GreenCreated: 28 May 2019, 2:08 p.m.
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, autosomal or pseudoautosomal; Phenotypes: 613329 Plasminogen activator inhibitor-1 deficiency; PMID(s): none submittedCreated: 18 Feb 2019, 11:28 a.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: 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 submittedCreated: 13 Feb 2019, 11:34 a.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: 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 submittedCreated: 7 Feb 2019, 1:28 p.m.
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, 1:21 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
613329 Plasminogen activator inhibitor-1 deficiency
Source Wessex and West Midlands GLH was added to SERPINE1.
Added phenotypes 613329 Plasminogen activator inhibitor-1 deficiency for gene: SERPINE1
Source North West GLH was added to SERPINE1.
Added phenotypes 613329 Plasminogen activator inhibitor-1 deficiency for gene: SERPINE1
Source Yorkshire and North East GLH was added to SERPINE1. Rating Changed from Green List (high evidence) to Green List (high evidence)
Gene: serpine1 has been classified as Green List (High Evidence).
Gene: serpine1 has been classified as Amber List (Moderate Evidence).
Mode of inheritance for gene: SERPINE1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Source NHS GMS was added to SERPINE1.
Added phenotypes 613329 Plasminogen activator inhibitor-1 deficiency for gene: SERPINE1
gene: SERPINE1 was added gene: SERPINE1 was added to Bleeding and platelet disorders. Sources: London South GLH Mode of inheritance for gene: SERPINE1 was set to