Insulin resistance (including lipodystrophy)

Gene: AKT2

Red List (low evidence)

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

2 reviews

Robert Semple (University of Cambridge)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. Only one LOF variant reported
Created: 12 Aug 2016, 3:13 p.m.
Comment on publications: 17327441 questions relevance of AKT2 LOF variants for type 2 diabetes risk, while 11387480 examining a mouse model supports the involvement of AKT in normal glucose homeostasis.
Created: 12 Aug 2016, 3:04 p.m.
Comment on phenotypes: Also associated with Hypoinsulinemic hypoglycemia with hemihypertrophy 240900
Created: 11 Aug 2016, 1 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
Phenotypes
  • Diabetes mellitus, type II 125853
OMIM
164731
Clinvar variants
Variants in AKT2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

12 Aug 2016, Gel status: 1

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to version 1 12/08/2016

12 Aug 2016, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

12 Aug 2016, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

12 Aug 2016, Gel status: 4

Set publications

Sarah Leigh (Genomics England Curator)

Publications for AKT2 were set to 15166380; 17327441; 17576055

12 Aug 2016, Gel status: 4

Set publications

Sarah Leigh (Genomics England Curator)

Publications for AKT2 were set to 15166380; 17327441

12 Aug 2016, Gel status: 4

Set publications

Sarah Leigh (Genomics England Curator)

Publications for AKT2 were set to 15166380; 21979934; 17327441; 26003998

11 Aug 2016, Gel status: 4

Upload gene information

Sarah Leigh (Genomics England Curator)

AKT2 was added to Insulin resistance (including lipodystrophy)panel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen

11 Aug 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for AKT2 were set to Diabetes mellitus, type II 125853

11 Aug 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

11 Aug 2016, Gel status: 0

Set publications

Sarah Leigh (Genomics England Curator)

Publications for AKT2 were set to 15166380; 21979934; 17327441

11 Aug 2016, Gel status: 0

Set publications

Sarah Leigh (Genomics England Curator)

Publications for AKT2 were set to PMID: 15166380; 21979934; 17327441

12 Oct 2015, Gel status: 0

Added New Source

Robert Semple (University of Cambridge)

AKT2 was added to Insulin resistance (including lipodystrophy) panel. Sources: Literature