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  2. Pulmonary Arterial Hypertension
  3. EIF2AK4
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Pulmonary Arterial Hypertension

Gene: EIF2AK4

Green List (high evidence)
EIF2AK4 (eukaryotic translation initiation factor 2 alpha kinase 4)
EnsemblGeneIds (GRCh38): ENSG00000128829
EnsemblGeneIds (GRCh37): ENSG00000128829
OMIM: 609280, Gene2Phenotype
EIF2AK4 is in 4 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Pulmonary hypertension is a feature of the condition
Sources: Expert list
Created: 23 Jan 2020, 12:18 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pulmonary venoocclusive disease 2 MIM#234810

Created: 23 Jan 2020, 12:18 a.m.

Panel version: 0.10

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Pulmonary venoocclusive disease 2 MIM#234810
OMIM
609280
Clinvar variants
Variants in EIF2AK4
Penetrance
None
Panels with this gene

History Filter Activity

27 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: eif2ak4 has been classified as Green List (High Evidence).

23 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: eif2ak4 has been classified as Green List (High Evidence).

23 Jan 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: EIF2AK4 was added gene: EIF2AK4 was added to Pulmonary Arterial Hypertension. Sources: Expert list Mode of inheritance for gene: EIF2AK4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EIF2AK4 were set to Pulmonary venoocclusive disease 2 MIM#234810 Review for gene: EIF2AK4 was set to GREEN