GP1BB

glycoprotein Ib platelet beta subunit
OMIM: 138720, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green GP1BB 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
  • Bernard-Soulier syndrome, type B, MIM# 231200
  • Macrothrombocytopaenia

Green GP1BB in Mendeliome


Version 1.1902

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Bernard-Soulier syndrome, type B, MIM# 231200
  • Macrothrombocytopaenia

Green GP1BB in IBMDx study


Version 0.25

review Unknown
Sources
  • Expert Review Green
  • IBMDx Study
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Bernard-Soulier syndrome (BSS)

Green GP1BB 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
  • Macrothrombocytopaenia
  • Bernard-Soulier syndrome, type B, MIM# 231200