GP1BA

glycoprotein Ib platelet alpha subunit
OMIM: 606672, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green GP1BA 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 A1 (recessive), (MIM#231200), AR (AR BSS)
  • von Willebrand disease, platelet-type, (MIM#177820), AD (VWD)
  • MONDO:0008332
  • Bernard-Soulier syndrome, type A2 (dominant), (MIM#153670) (AD BSS)
  • MONDO:0007930

Green GP1BA 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 A1 (recessive), (MIM#231200), AR (AR BSS)
  • von Willebrand disease, platelet-type, (MIM#177820), AD (VWD)
  • MONDO:0008332
  • Bernard-Soulier syndrome, type A2 (dominant), (MIM#153670) (AD BSS)
  • MONDO:0007930

Green GP1BA 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)

Red GP1BA in Prepair 1000+


Level 2: Screening
Version 1.9

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Bernard-Soulier syndrome, type A1 (recessive), (MIM#231200), AR (AR BSS)
  • von Willebrand disease, platelet-type, (MIM#177820), AD (VWD)
  • MONDO:0008332
  • Bernard-Soulier syndrome, type A2 (dominant), (MIM#153670) (AD BSS)
  • MONDO:0007930

Green GP1BA 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:0007930
  • MONDO:0008332
  • Bernard-Soulier syndrome, type A1 (recessive), (MIM#231200), AR (AR BSS)
  • von Willebrand disease, platelet-type, (MIM#177820), AD (VWD)
  • Bernard-Soulier syndrome, type A2 (dominant), (MIM#153670) (AD BSS)