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  3. PTGIR
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Spontaneous coronary artery dissection

Gene: PTGIR

Red List (low evidence)
PTGIR (prostaglandin I2 receptor)
EnsemblGeneIds (GRCh38): ENSG00000160013
EnsemblGeneIds (GRCh37): ENSG00000160013
OMIM: 600022, Gene2Phenotype
PTGIR is in 1 panel

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Red List (low evidence)

PMID: 32531060; searched for 'rare' LoF variants in individuals with fibromuscular dysplasia.
However, this gene is NOT LoF constraint in gnomad v4.
200 hets for an NMD variant

All other papers cited PMID: 32531060
Sources: Literature
Created: 28 Jun 2024, 1:01 a.m. | Last Modified: 8 Aug 2024, 6:46 a.m.
Panel Version: 0.45

Mode of inheritance
Unknown

Publications

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

Created: 28 Jun 2024, 1:01 a.m.
Last Modified: 8 Aug 2024, 6:46 a.m.
Panel version: 0.27

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Red
  • Literature
OMIM
600022
Clinvar variants
Variants in PTGIR
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Aug 2024, Gel status: 1

Set publications

Ain Roesley (Victorian Clinical Genetics Services)

Publications for gene: PTGIR were set to 32531060; 37979122

28 Jun 2024, Gel status: 1

Entity classified by Genomics England curator

Ain Roesley (Victorian Clinical Genetics Services)

Gene: ptgir has been classified as Red List (Low Evidence).

28 Jun 2024, Gel status: 1

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

Ain Roesley (Victorian Clinical Genetics Services)

gene: PTGIR was added gene: PTGIR was added to Spontaneous coronary artery dissection. Sources: Literature Mode of inheritance for gene: PTGIR was set to Unknown Publications for gene: PTGIR were set to 32531060; 37979122 Review for gene: PTGIR was set to RED gene: PTGIR was marked as current diagnostic