Genomics England
GMS Panels
Panels
Genes and Entities

EPAS1

endothelial PAS domain protein 1
OMIM: 603349
PanelMode of inheritanceDetails
1 panel
Green
in Hereditary Erythrocytosis
R-numbers: R405
Signed-off version 1.19
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Familial Erythrocytosis, 611783, Erythrocystosis, Pulmonary arterial hypertension, paraganglioma