Insulin resistance (including lipodystrophy)
Gene: AKT2
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. Only one LOF variant reportedCreated: 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 240900Created: 11 Aug 2016, 1 p.m.
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
Promoted to version 1 12/08/2016
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
Publications for AKT2 were set to 15166380; 17327441; 17576055
Publications for AKT2 were set to 15166380; 17327441
Publications for AKT2 were set to 15166380; 21979934; 17327441; 26003998
AKT2 was added to Insulin resistance (including lipodystrophy)panel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen
Phenotypes for AKT2 were set to Diabetes mellitus, type II 125853
This gene has been classified as Green List (High Evidence).
Publications for AKT2 were set to 15166380; 21979934; 17327441
Publications for AKT2 were set to PMID: 15166380; 21979934; 17327441
AKT2 was added to Insulin resistance (including lipodystrophy) panel. Sources: Literature