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  2. Monogenic Diabetes
  3. EIF2AK3
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Monogenic Diabetes

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

Hali Van Niel (University of Melbourne)

Green List (high evidence)

Established gene-disease association with Wolcott-Rallison syndrome, disease characterised by neonatal diabetes mellitus
Created: 21 May 2024, 6:14 a.m. | Last Modified: 21 May 2024, 6:14 a.m.
Panel Version: 0.125

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Wolcott-Rallison syndrome MONDO:0009192; neonatal diabetes mellitus MONDO:0016391

Publications

Created: 21 May 2024, 6:14 a.m.
Last Modified: 21 May 2024, 6:14 a.m.
Panel version: 0.125

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
Phenotypes
  • Wolcott-Rallison syndrome MONDO:0009192
  • neonatal diabetes mellitus MONDO:0016391
OMIM
604032
Clinvar variants
Variants in EIF2AK3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 May 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).

23 May 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: EIF2AK3 were changed from Wolcott-Rallison syndrome; Multiple Epiphyseal Dysplasia with Early-Onset Diabetes Mellitus to Wolcott-Rallison syndrome MONDO:0009192; neonatal diabetes mellitus MONDO:0016391

23 May 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: EIF2AK3 were set to 19837917

17 Jan 2020, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: EIF2AK3 was added gene: EIF2AK3 was added to Monogenic diabetes. Sources: UKGTN,Expert Review Green Mode of inheritance for gene: EIF2AK3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EIF2AK3 were set to 19837917 Phenotypes for gene: EIF2AK3 were set to Wolcott-Rallison syndrome; Multiple Epiphyseal Dysplasia with Early-Onset Diabetes Mellitus