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  2. DEMO Diabetes neonatal onset
  3. EIF2AK3
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DEMO Diabetes neonatal onset

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

4 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Initial gene list and info collated by Sian Ellard, University of Exeter Medical School, August 2018 on behalf of the GMS Endocrinology specialist test group. Gene Symbol submitted: EIF2AK3; Suggested intial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given; Phenotypes: Wolcott Rallison syndrome.
Created: 11 Jan 2019, 4:27 p.m.
Created: 11 Jan 2019, 4:27 p.m.

Panel version: Imported from Diabetes - neonatal onset panel version 1.13

Sian Ellard (University of Exeter Medical School)

Green List (high evidence)

Created: 5 Nov 2017, 2:39 a.m.

Panel version: Imported from Diabetes - neonatal onset panel version 0

Rebecca Foulger (Genomics England curator)

Comment on list classification: Updated rating from Red to Green: 1 Green expert review, confirmed DD-G2P gene for 'Wolcott-Rallison Syndrome', which includes early-onset diabetes. Part of Exeter neonatal diabetes screen and >3 unrelated cases supporting causation.
Created: 20 Apr 2017, 10:51 a.m.
Comment on mode of inheritance: Biallelic mode of inheritance confirmed on OMIM and G2P.
Created: 20 Apr 2017, 10:33 a.m.
Created: 20 Apr 2017, 10:33 a.m.

Panel version: Imported from Diabetes - neonatal onset panel version 0.27

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Promoted to green from amber due to expert review.
Created: 7 Jun 2016, 9:27 a.m.
Created: 7 Jun 2016, 9:27 a.m.

Panel version: Imported from Familial diabetes panel version 0.32

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • UKGTN
  • Eligibility statement prior genetic testing
  • NHS GMS
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Wolcott-Rallison syndrome, 226980 (includes onset of diabetes in neonatal period/ early infancy)
OMIM
604032
Clinvar variants
Variants in EIF2AK3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Dec 2019, Gel status: 3

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

Ellen McDonagh (Genomics England Curator)

gene: EIF2AK3 was added gene: EIF2AK3 was added to DEMO Diabetes - neonatal onset. Sources: Expert Review Green,NHS GMS,Eligibility statement prior genetic testing,UKGTN 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, 226980 (includes onset of diabetes in neonatal period/ early infancy)