Genomics England
GMS Panels
Panels
Genes and Entities

EGLN1

egl-9 family hypoxia inducible factor 1
OMIM: 606425
PanelMode of inheritanceDetails
1 panel
Green
in Hereditary Erythrocytosis
R-numbers: R405
Signed-off version 2.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Erythrocytosis, familial, 3, OMIM:609820