Bleeding and platelet disorders
Gene: PTGS1The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 4 Mar 2022, 9:41 a.m. | Last Modified: 4 Mar 2022, 9:41 a.m.
Panel Version: 1.33
This gene should be given Green status at the next review based on available evidence.Created: 1 Feb 2021, 10:50 a.m. | Last Modified: 1 Feb 2021, 10:50 a.m.
Panel Version: 1.20
Further family reported. Note previous reports are much older and the defects seems to have been characterised at protein rather than gene level.Created: 16 Aug 2020, 3:38 a.m. | Last Modified: 16 Aug 2020, 3:38 a.m.
Panel Version: 1.6
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Platelet dysfunction; bleeding
Publications
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
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
605735 BLEEDING DISORDER, PLATELET-TYPE, 12; BDPLT12
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
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
605735 BLEEDING DISORDER, PLATELET-TYPE, 12
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
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
605735.BLEEDING DISORDER, PLATELET-TYPE, 12; BDPLT12
Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019: The Specialist Test Group agreed that this gene should be rated Amber, so was downgraded from Green to Amber.Created: 18 Mar 2019, 3:37 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: PTGS1; Suggested initial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 605735.BLEEDING DISORDER, PLATELET-TYPE, 12; BDPLT12; 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: PTGS1; Suggested intial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 605735 BLEEDING DISORDER, PLATELET-TYPE, 12; 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: PTGS1; Suggested intial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 605735.BLEEDING DISORDER, PLATELET-TYPE, 12; BDPLT12; PMID(s): none submittedCreated: 7 Feb 2019, 1:28 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: PTGS1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene as part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 605735 BLEEDING DISORDER, PLATELET-TYPE, 12; BDPLT12; PMID(s): 6103258; 8562397; 11442478; 27629384; 28748566Created: 5 Feb 2019, 1:26 p.m.
There now appears to be sufficient evidence for green rating (PMID: 32299908;24008976) for biallelic inheritance and there is also one report of monoallelic inheritance (PMID: 33326144).Created: 31 Jan 2021, 5:02 p.m. | Last Modified: 31 Jan 2021, 5:02 p.m.
Panel Version: 1.19
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, 11:19 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Platelet dysfunction and bleeding
Publications
Variants in this GENE are reported as part of current diagnostic practice
Tag gene-checked tag was added to gene: PTGS1.
Tag for-review was removed from gene: PTGS1.
Source Expert Review Green was added to PTGS1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag for-review tag was added to gene: PTGS1.
Publications for gene: PTGS1 were set to 11442478; 27629384; 8562397; 28748566; 6103258
Gene: ptgs1 has been classified as Amber List (Moderate Evidence).
Added phenotypes BDPLT12; 605735 BLEEDING DISORDER, PLATELET-TYPE, 12 for gene: PTGS1
Source North West GLH was added to PTGS1.
Added phenotypes 605735 BLEEDING DISORDER, PLATELET-TYPE, 12 for gene: PTGS1
Source Yorkshire and North East GLH was added to PTGS1.
Added phenotypes BDPLT12; 605735 BLEEDING DISORDER, PLATELET-TYPE, 12 for gene: PTGS1
Source London South GLH was added to PTGS1.
Source NHS GMS was added to PTGS1.
Source Expert Review Green was added to PTGS1. Mode of inheritance for gene PTGS1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes BDPLT12; 605735 BLEEDING DISORDER, PLATELET-TYPE, 12 for gene: PTGS1 Publications for gene PTGS1 were changed from to 11442478; 27629384; 8562397; 28748566; 6103258 Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: PTGS1 was added gene: PTGS1 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: PTGS1 was set to