GP9:Ensemblv90

glycoprotein IX platelet
OMIM: 173515, ClinGen, DECIPHER

9 panels

Panel Reviews Mode of inheritance Details
9 panels

Green GP9 in Bleeding and Platelet Disorders


Level 2: Haematological disorders
Version 1.63

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Bernard-Soulier syndrome, type C, MIM# 231200

Green GP9 in Mendeliome


Version 1.3802

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Bernard-Soulier syndrome, type C, MIM# 231200

Green GP9 in IBMDx study


Version 0.38

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

Red GP9 in Prepair 1000+


Level 2: Screening
Version 2.15

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Bernard-Soulier syndrome, type C (MIM#231200)

Green GP9 in Transplant Co-Morbidity


Level 2: Screening
Version 0.20

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Bernard-Soulier syndrome, type C, MIM# 231200

Green GP9 in Bleeding and Platelet Disorders


Level 2: Haematological disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Bernard-Soulier syndrome, type C, MIM# 231200

Green GP9 in IBMDx study


Version 1.0

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

Red GP9 in Prepair 1000+


Level 2: Screening
Version 3.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Red
Phenotypes
  • Bernard-Soulier syndrome, type C (MIM#231200)

Green GP9 in Transplant Co-Morbidity


Level 2: Screening
Version 1.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Bernard-Soulier syndrome, type C, MIM# 231200