Congenital hyperinsulinism
Gene: 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
ActivatingCreated: 25 Jan 2019, 10:11 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
hypoinsulinemic hypoketotic hypoglycemia
Publications
Variants in this GENE are reported as part of current diagnostic practice
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 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