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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

Karina Sandoval (Victorian Clinical Genetics Services)

I don't know

Slowly progressive and ultimately fatal without a lung transplant. Age of onset in 3rd decade.

Pulmonary hypertension is a feature of the condition

Well established gene-disease assoc. Severe; yes. Early onset; varies

PMID:24135949 - 2 affected sibs, aged 19y & 33y at diagnosis. And 2x sporadic cases at 22y & 15y

PMID: 24292273 - 13 families with 19 affected individuals. Age of PVOD diagnosis 3x 2nd decade (aged 11, 15 & 19), 9x 3rd decade, 4x 4th decade, 2x 5th decade, 1x 6th decade
Created: 11 Mar 2025, 5:52 a.m. | Last Modified: 11 Mar 2025, 5:53 a.m.
Panel Version: 1.1568

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pulmonary venoocclusive disease 2, MIM#234810

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Pulmonary venoocclusive disease 2, 234810 (3)
OMIM
609280
Clinvar variants
Variants in EIF2AK4
Penetrance
None
Panels with this gene

History Filter Activity

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: EIF2AK4 was added gene: EIF2AK4 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: EIF2AK4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EIF2AK4 were set to Pulmonary venoocclusive disease 2, 234810 (3)