Bleeding and platelet disorders

Gene: PTGS1

The 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

I don't know

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

• 32299908

I don't know

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, 11:23 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
605735 BLEEDING DISORDER, PLATELET-TYPE, 12; BDPLT12

I don't know

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

I don't know

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

I don't know

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 submitted

Created: 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 submitted

Created: 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 submitted

Created: 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; 28748566

Created: 5 Feb 2019, 1:26 p.m.

Green List (high evidence)

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

• PMID: 32299908
• 24008976
• 33326144
• 32584621

Variants in this GENE are reported as part of current diagnostic practice