Bleeding and Platelet Disorders
Gene: PTGS1EnsemblGeneIds (GRCh38): ENSG00000095303
EnsemblGeneIds (GRCh37): ENSG00000095303
OMIM: 176805, Gene2Phenotype
PTGS1 is in 2 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
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 listCreated: 16 Aug 2020, 3:41 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
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: PTGS1 were set to 32299908; 11442478; 27629384 8562397
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ptgs1 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ptgs1 has been classified as Amber List (Moderate Evidence).
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 Bleeding Disorders. 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