Additional findings_Paediatric
Gene: P2RY12

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

2 reviews

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, 1:57 a.m. | Last Modified: 4 Jun 2021, 1:57 a.m.

Panel Version: 0.221

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, 1:57 a.m.
Last Modified: 4 Jun 2021, 1:57 a.m.
Panel version: 0.221

Lilian Downie (Victorian Clinical Genetics Services)

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. Onset childhood. Treatable with FFP for procedures. Not reviewed by Babyseq, in the NC NEXUS list.
Sources: Expert list
Sources: Expert list
Created: 24 Sep 2020, 2:51 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bleeding disorder, platelet-type, 8 MIM# 609821

Created: 24 Sep 2020, 2:51 a.m.

Panel version: 0.20

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Green
Expert list

Phenotypes

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

OMIM

600515

Clinvar variants

Variants in P2RY12

Penetrance

None

Publications

Panels with this gene