EIF2AK4

eukaryotic translation initiation factor 2 alpha kinase 4
OMIM: 609280
PanelMode of inheritanceDetails
1 panel
R-numbers: R188
Signed-off version 2.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Pulmonary venoocclusive disease 2, 234810, PVOD, pulmonary capillary hemangiomatosis, PCH, Heritable pulmonary arterial hypertension, HPAH, Pulmonary arterial hypertension, Idiopathic pulmonary arterial hypertension, IPAH