Bleeding and Platelet Disorders
Gene: P2RY12

P2RY12 (purinergic receptor P2Y12)
EnsemblGeneIds (GRCh38): ENSG00000169313
EnsemblGeneIds (GRCh37): ENSG00000169313
OMIM: 600515, Gene2Phenotype
P2RY12 is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Platelet-type bleeding disorder-8 is characterized by mild to moderate mucocutaneous bleeding and excessive bleeding after surgery or trauma. The defect is due to the inability of ADP to induce platelet aggregation.

Families with bi-allelic and mono-allelic disease reported. Dominant negative mechanism proposed for mono-allelic disease.
Created: 4 Jun 2021, 1:48 a.m. | Last Modified: 4 Jun 2021, 1:52 a.m.

Panel Version: 0.294

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Bleeding disorder, platelet-type, 8, MIM# 609821; MONDO:0012354

Publications

Created: 4 Jun 2021, 1:48 a.m.
Last Modified: 4 Jun 2021, 1:52 a.m.
Panel version: 0.294

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Bleeding disorder, platelet-type, 8, MIM# 609821
MONDO:0012354

OMIM

600515

Clinvar variants

Variants in P2RY12

Penetrance

None

Publications

Panels with this gene