Genomics England
GMS Panels
Panels
Genes and Entities

MPL

MPL proto-oncogene, thrombopoietin receptor
OMIM: 159530
PanelMode of inheritanceDetails
3 panels
Green
in Bleeding and platelet disorders
R-numbers: R90
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
604498 Thrombocytopenia, congenital amegakaryocytic
Green
in Cytopenia - NOT Fanconi anaemia
R-numbers: R91
Signed-off version 2.1
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
601977 Thrombocythemia 2, 604498 Thrombocytopenia, congenital amegakaryocytic, Thrombocytopenia, congenital amegakaryocytic, 604498
Green
in Thrombocythaemia
R-numbers: R406
Signed-off version 1.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Thrombocythemia 2, 601977