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BabyScreen+ newborn screening

Gene: P2RY12

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

1 review

David Amor (Murdoch Children's Research Institute)

Red List (low evidence)

Gene-disease association: limited literature. Platelet-type bleeding disorder-8 is an autosomal recessive condition 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

Severity: moderate

Age of onset: congenital, but symptoms often not until later in life

Non-molecular confirmatory testing: yes, patient functon studies

Treatment: symptomatic only.

Exclude due to lack of treatment, symptoms unlikely in first 5 years
Created: 1 Nov 2022, 11:50 p.m. | Last Modified: 1 Nov 2022, 11:50 p.m.
Panel Version: 0.719

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
609821, Bleeding disorder, platelet-type, 8

Created: 1 Nov 2022, 11:50 p.m.
Last Modified: 1 Nov 2022, 11:50 p.m.
Panel version: 0.719

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • 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

History Filter Activity

2 Nov 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: p2ry12 has been classified as Red List (Low Evidence).

2 Nov 2022, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: P2RY12 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal

2 Nov 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: p2ry12 has been classified as Red List (Low Evidence).

18 Sep 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: P2RY12 was added gene: P2RY12 was added to gNBS. Sources: Expert list,Expert Review Green Mode of inheritance for gene: P2RY12 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: P2RY12 were set to 29117459; 11196645; 19237732; 12578987 Phenotypes for gene: P2RY12 were set to Bleeding disorder, platelet-type, 8, MIM# 609821; MONDO:0012354