Genomics England
GMS Panels
Panels
Genes and Entities

GP1BB

glycoprotein Ib platelet beta subunit
OMIM: 138720
PanelMode of inheritanceDetails
1 panel
Green
in Bleeding and platelet disorders
R-numbers: R90
Signed-off version 4.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Bernard-Soulier syndrome, type B, OMIM:231200, Giant platelet disorder, isolated, OMIM:231200, Macrothrombocytopenia