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Newborns main panel

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 11 panels

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
Wolcott-Rallison syndrome - PubMed (nih.gov)
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • multiple epiphyseal dysplasia with early onset diabetes mellitus, Wolcott-Rallison syndrome
OMIM
604032
Clinvar variants
Variants in EIF2AK3
Penetrance
None
Panels with this gene

History Filter Activity

17 Mar 2026, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: EIF2AK3 were changed from multiple epiphyseal dysplasia with early onset diabetes mellitus, Wolcot-Rallison syndrome to multiple epiphyseal dysplasia with early onset diabetes mellitus, Wolcott-Rallison syndrome

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes multiple epiphyseal dysplasia with early onset diabetes mellitus, Wolcot-Rallison syndrome for gene: EIF2AK3

5 Jul 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes multiple epiphyseal dysplasia with early onset diabetes mellitus, Wolcot-Rallison syndrome for gene: EIF2AK3

31 May 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to EIF2AK3. Added phenotypes multiple epiphyseal dysplasia with early onset diabetes mellitus, Wolcot-Rallison syndrome for gene: EIF2AK3 Rating Changed from No List (delete) to Green List (high evidence)

5 May 2023, Gel status: 0

Added New Source, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Removed was added to EIF2AK3. Rating Changed from Green List (high evidence) to No List (delete)

9 Mar 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes multiple epiphyseal dysplasia with early onset diabetes mellitus, Wolcot-Rallison syndrome for gene: EIF2AK3

9 Mar 2023, Gel status: 3

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: EIF2AK3 was added gene: EIF2AK3 was added to Newborns main panel. Sources: Expert Review Green Mode of inheritance for gene: EIF2AK3 was set to BIALLELIC, autosomal or pseudoautosomal