Insulin resistance (including lipodystrophy)
Gene: AKT2

AKT2 (AKT serine/threonine kinase 2)
EnsemblGeneIds (GRCh38): ENSG00000105221
EnsemblGeneIds (GRCh37): ENSG00000105221
OMIM: 164731, Gene2Phenotype
AKT2 is in 12 panels

2 reviews

Robert Semple (University of Cambridge)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Created: 5 Nov 2017, 2:37 a.m.

Panel version: 0

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.

Created: 11 Aug 2016, 12:29 p.m.

Panel version: 0.46

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, OMIM:125853
Type 2 diabetes mellitus, MONDO:0005148

OMIM

164731

Clinvar variants

Variants in AKT2

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

29 Jan 2021, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: AKT2 were changed from Diabetes mellitus, type II 125853 to Diabetes mellitus, type II, OMIM:125853; Type 2 diabetes mellitus, MONDO:0005148

12 Aug 2016, Gel status: 1