Genomics England
GMS Panels
Panels
Genes and Entities

EIF2AK4

eukaryotic translation initiation factor 2 alpha kinase 4
OMIM: 609280
PanelMode of inheritanceDetails
1 panel
Green
in Pulmonary arterial hypertension
R-numbers: R188
Signed-off version 3.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Pulmonary venoocclusive disease 2, OMIM:234810, PVOD, pulmonary capillary hemangiomatosis, PCH, Heritable pulmonary arterial hypertension, HPAH, Pulmonary arterial hypertension, Idiopathic pulmonary arterial hypertension, IPAH