Genomics England
GMS Panels
Panels
Genes and Entities

EPOR

erythropoietin receptor
OMIM: 133171
PanelMode of inheritanceDetails
1 panel
Green
in Hereditary Erythrocytosis
R-numbers: R405
Signed-off version 2.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
[Erythrocytosis, familial, 1], OMIM:133100