Congenital hyperinsulinismGene: AKT2
I am confused about the inclusion of this gene: phenotype appears specifically to be HYPOinsulinaemia.
Created: 14 Feb 2020, 7:50 a.m. | Last Modified: 14 Feb 2020, 7:50 a.m.
Panel Version: 2.1
Comment on mode of pathogenicity: Variants in this gene has an activating effect.
Created: 5 Feb 2019, 1:10 p.m.
Comment on list classification: Promoted from red to green as recommended by Jayne Houghton (South West GLH). PMID: 21979934 shows 3 unrelated children with the same missense variant in AKT2. In vitro cell studies showed that the variant has an activating effect. PMID: 24285683 describes another case of an unrelated patient with the same missense variant as PMID: 21979934.
Created: 28 Jan 2019, 11:29 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: Autosomal dominant fasting hypoglycaemia and asymmetrical overgrowth.
Created: 11 Jan 2019, 2:24 p.m.
Phenotypes for gene: AKT2 were changed from hypoinsulinemic hypoketotic hypoglycemia, 240900; Autosomal dominant fasting hypoglycaemia and asymmetrical overgrowth to Hypoinsulinemic hypoglycemia with hemihypertrophy, OMIM:240900; Hypoinsulinemic hypoglycemia and body hemihypertrophy, MONDO:0009416
Phenotypes for gene: AKT2 were changed from hypoinsulinemic hypoketotic hypoglycemia to hypoinsulinemic hypoketotic hypoglycemia, 240900; Autosomal dominant fasting hypoglycaemia and asymmetrical overgrowth
Mode of pathogenicity for gene: AKT2 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Gene: akt2 has been classified as Green List (High Evidence).
Publications for gene: AKT2 were set to
Phenotypes for gene: AKT2 were changed from to hypoinsulinemic hypoketotic hypoglycemia
Mode of inheritance for gene: AKT2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
gene: AKT2 was added gene: AKT2 was added to Congenital hyperinsulinism. Sources: NHS GMS Mode of inheritance for gene: AKT2 was set to