P2RY12

purinergic receptor P2Y12
OMIM: 600515, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green P2RY12 in Bleeding and Platelet Disorders


Level 2: Haematological disorders
Version 1.52

1 review 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

Green P2RY12 in Mendeliome


Version 1.2302

1 review 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

Green P2RY12 in Additional findings_Paediatric


Level 2: Screening
Version 0.278

2 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Bleeding disorder, platelet-type, 8, MIM# 609821
  • MONDO:0012354

Red P2RY12 in BabyScreen+ newborn screening


Level 2: Screening
Version 1.116

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Bleeding disorder, platelet-type, 8, MIM# 609821
  • MONDO:0012354

Green P2RY12 in Transplant Co-Morbidity Superpanel


Level 2: Screening
Version 0.18

0 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • MONDO:0012354
  • Bleeding disorder, platelet-type, 8, MIM# 609821