Genomics England
GMS Panels
Panels
Genes and Entities

GP1BA

glycoprotein Ib platelet alpha subunit
OMIM: 606672
PanelMode of inheritanceDetails
1 panel
Green
in Bleeding and platelet disorders
R-numbers: R90
Signed-off version 3.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
BSS, 231200 BERNARD-SOULIER SYNDROME, 177820 von Willebrand disease, platelet-type, 231200BERNARD-SOULIER SYNDROME