Familial diabetesGene: AKT2
Comment on list classification: Promoted from red to green as advised via email communication with Jane Houghton (South West GLH).
Created: 28 Jan 2019, 9:36 a.m.
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: AKT2; 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: Severe insulin resistance, partial lipodystrophy and diabetes.
Created: 11 Jan 2019, 10:04 a.m.
Phenotypes for gene: AKT2 were changed from Diabetes mellitus, type II to Diabetes mellitus, type II,125853; Hypoinsulinemic hypoglycemia with hemihypertrophy, 240900
gene: AKT2 was added gene: AKT2 was added to Familial diabetes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: AKT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: AKT2 were set to 17327441; 17576055; 15166380 Phenotypes for gene: AKT2 were set to Diabetes mellitus, type II