P2RY12

purinergic receptor P2Y12
OMIM: 600515, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green P2RY12 in Bleeding and Platelet Disorders


Level 2: Haematological disorders
Version 1.43

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 1.1902

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

review 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 1.114

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

review 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