Monogenic diabetes

Gene: AKT2

Green List (high evidence)

AKT2 (AKT serine/threonine kinase 2)
EnsemblGeneIds (GRCh38): ENSG00000105221
EnsemblGeneIds (GRCh37): ENSG00000105221
OMIM: 164731, Gene2Phenotype
AKT2 is in 10 panels

1 review

Ivone Leong (Genomics England Curator)

Green List (high evidence)

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.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Diabetes mellitus, type II, 125853
  • Severe insulin resistance, partial lipodystrophy and diabetes
OMIM
164731
Clinvar variants
Variants in AKT2
Penetrance
None
Publications
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 Diabetes mellitus, type II, 125853 to Diabetes mellitus, type II, 125853; Severe insulin resistance, partial lipodystrophy and diabetes

15 Jul 2019, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: AKT2 were changed from Diabetes mellitus, type II to Diabetes mellitus, type II, 125853

30 Jan 2019, Gel status: 3

Panel promoted to version 1.0

Ivone Leong (Genomics England Curator)

Ivone Leong: Initial gene list and info col

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).

11 Jan 2019, Gel status: 1

Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to AKT2.

18 Dec 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: AKT2 was added gene: AKT2 was added to Monogenic diabetes. Sources: Expert Review Red Mode of inheritance for gene: AKT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: AKT2 were set to 17576055; 17327441; 15166380 Phenotypes for gene: AKT2 were set to Diabetes mellitus, type II