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