Neonatal diabetes
Gene: EIF2AK3
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.
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.
Phenotypes for gene: EIF2AK3 were changed from Wolcott-Rallison syndrome, 226980 (includes onset of diabetes in neonatal period/ early infancy) to Wolcott-Rallison syndrome, OMIM:226980 (includes onset of diabetes in neonatal period/ early infancy)
Source NHS GMS was added to EIF2AK3. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted panel to Version 1: 31st May 2017. This panel is largely aligned with the Exeter Molecular Genetics Laboratory neonatal diabetes screen. Note that 8 genes feature on the Exeter 8-gene panel for patients with 'neonatal diabetes and autoimmune disease' (FOXP3, IL2RA, ITCH, LRBA, SIRT1, STAT1, STAT3 and STAT5). ITCH, SIRT1, STAT1 and STAT5A/B do not feature on this panel following correspondance with Elisa De-Franco (University of Exeter Medical School) that, at the time of curation, none of the patients with mutations in ITCH, SIRT1, STAT1 and STAT5b had diabetes diagnosed in the neonatal period, and therefore there is currently insufficient evidence to include these genes in this neonatal diabetes panel.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Mode of inheritance for EIF2AK3 was changed to BIALLELIC, autosomal or pseudoautosomal
Publications for EIF2AK3 were set to 19837917
Phenotypes for EIF2AK3 were set to Wolcott-Rallison syndrome, 226980 (includes onset of diabetes in neonatal period/ early infancy)
EIF2AK3 was added to Neonatal diabetes diagnosed <6 monthspanel. Sources: Eligibility statement prior genetic testing
Model of inheritance for gene EIF2AK3 was changed to BIALLELIC, autosomal or pseudoautosomal
EIF2AK3 was added to Neonatal diabetes diagnosed <6 monthspanel. Sources: UKGTN