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Gene: EIF2AK3

Green List (high evidence)
EIF2AK3 (eukaryotic translation initiation factor 2 alpha kinase 3)
EnsemblGeneIds (GRCh38): ENSG00000172071
EnsemblGeneIds (GRCh37): ENSG00000172071
OMIM: 604032, Gene2Phenotype
EIF2AK3 is in 10 panels

1 review

Andrew Coventry (Victorian Clinical Genetics Services)

Green List (high evidence)

Well established gene-disease association. Wolcott-Rallison syndrome is a very rare genetic disease, characterized by permanent neonatal diabetes mellitus (PNDM) with multiple epiphyseal dysplasia and other clinical manifestations, including recurrent episodes of acute liver failure. Intellectual disability and developmental delay have also been reported to develop. Onset typically at birth or in first years of life, usually with diabetes within first 6 months. Course of condition is variable, however, prognosis is poor with death of patients usually at a young age due to organ failure (liver/renal). Mouse model present.
Created: 6 Aug 2024, 11:32 p.m. | Last Modified: 6 Aug 2024, 11:32 p.m.
Panel Version: 1.82

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Wolcott-Rallison syndrome MIM#226980

Publications

Created: 6 Aug 2024, 11:32 p.m.
Last Modified: 6 Aug 2024, 11:32 p.m.
Panel version: 1.82

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Wolcott-Rallison syndrome MIM#226980
OMIM
604032
Clinvar variants
Variants in EIF2AK3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Aug 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: eif2ak3 has been classified as Green List (High Evidence).

8 Aug 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: EIF2AK3 were changed from Wolcott-Rallison syndrome, 226980 (3) to Wolcott-Rallison syndrome MIM#226980

8 Aug 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: EIF2AK3 were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Wolcott-Rallison syndrome, 226980 (3) for gene: EIF2AK3

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: EIF2AK3 was added gene: EIF2AK3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: EIF2AK3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EIF2AK3 were set to Wolcott-Rallison syndrome, 226980 (3)