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Mendeliome

Gene: PTGS1

Amber List (moderate evidence)

PTGS1 (prostaglandin-endoperoxide synthase 1)
EnsemblGeneIds (GRCh38): ENSG00000095303
EnsemblGeneIds (GRCh37): ENSG00000095303
OMIM: 176805, Gene2Phenotype
PTGS1 is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Single molecularly characterised family reported. However, note at least two previous older reports where deficiency was identified at protein rather than gene level.
Sources: Expert list
Created: 16 Aug 2020, 3:44 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Platelet dysfunction; bleeding

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Platelet dysfunction
  • bleeding
OMIM
176805
Clinvar variants
Variants in PTGS1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Aug 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ptgs1 has been classified as Amber List (Moderate Evidence).

16 Aug 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ptgs1 has been classified as Amber List (Moderate Evidence).

16 Aug 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PTGS1 was added gene: PTGS1 was added to Mendeliome. Sources: Expert list Mode of inheritance for gene: PTGS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PTGS1 were set to 32299908; 11442478; 27629384; 8562397 Phenotypes for gene: PTGS1 were set to Platelet dysfunction; bleeding Review for gene: PTGS1 was set to AMBER