Congenital hyperinsulinism

Gene: AKT2

Green List (high evidence)

AKT2 (AKT serine/threonine kinase 2)
EnsemblGeneIds (GRCh38): ENSG00000105221
EnsemblGeneIds (GRCh37): ENSG00000105221
OMIM: 164731, Gene2Phenotype
AKT2 is in 9 panels

2 reviews

Jayne Houghton (Royal Devon and Exeter Foundation Trust)

Green List (high evidence)

Activating
Created: 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

Ivone Leong (Genomics England Curator)

Green List (high evidence)

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.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • hypoinsulinemic hypoketotic hypoglycemia, 240900
  • Autosomal dominant fasting hypoglycaemia and asymmetrical overgrowth
OMIM
164731
Clinvar variants
Variants in AKT2
Penetrance
None
Publications
Mode of Pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Panels with this gene

History Filter Activity

15 Jul 2019, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: AKT2 were changed from hypoinsulinemic hypoketotic hypoglycemia to hypoinsulinemic hypoketotic hypoglycemia, 240900; Autosomal dominant fasting hypoglycaemia and asymmetrical overgrowth

5 Feb 2019, Gel status: 3

Set mode of pathogenicity

Ivone Leong (Genomics England Curator)

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

28 Jan 2019, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: akt2 has been classified as Green List (High Evidence).

28 Jan 2019, Gel status: 1

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: AKT2 were set to

28 Jan 2019, Gel status: 1

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: AKT2 were changed from to hypoinsulinemic hypoketotic hypoglycemia

28 Jan 2019, Gel status: 1

Set mode of inheritance

Ivone Leong (Genomics England Curator)

Mode of inheritance for gene: AKT2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

11 Jan 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Ivone Leong (Genomics England Curator)

gene: AKT2 was added gene: AKT2 was added to Congenital hyperinsulinism. Sources: NHS GMS Mode of inheritance for gene: AKT2 was set to