EIF2AK4

eukaryotic translation initiation factor 2 alpha kinase 4
OMIM: 609280, Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel
Green EIF2AK4 in Pulmonary arterial hypertension

Level 3: Pulmonary heart disease
Level 2: Cardiovascular disorders
Version 3.5
Latest signed off version: v3.0 (30 Nov 2022)

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert list
  • Expert Review Green
  • Literature
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