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  3. AKT2
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Monogenic Diabetes

Gene: AKT2

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

1 review

Hali Van Niel (University of Melbourne)

Red List (low evidence)

One patient with T2D with AKT2 gene mutation combined with PLIN1 gene mutation (PMID: 37105912)
Cosegregation in one family for T2D and AKT2 gene mutation (PMID: 15166380)
Increased risk of T2D with AKT2 variants (PMID: 28341696)
Created: 30 Apr 2024, 6:31 a.m. | Last Modified: 30 Apr 2024, 6:31 a.m.
Panel Version: 0.52

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
type 2 diabetes mellitus MONDO:0005148

Publications

Created: 30 Apr 2024, 6:31 a.m.
Last Modified: 30 Apr 2024, 6:31 a.m.
Panel version: 0.52

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Diabetes mellitus, type II, 125853
OMIM
164731
Clinvar variants
Variants in AKT2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Apr 2024, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: akt2 has been classified as Red List (Low Evidence).

30 Apr 2024, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: AKT2 were changed from Diabetes mellitus, type II, 125853; Severe insulin resistance, partial lipodystrophy and diabetes to Diabetes mellitus, type II, 125853

30 Apr 2024, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: akt2 has been classified as Red List (Low Evidence).

17 Jan 2020, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: AKT2 was added gene: AKT2 was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: AKT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: AKT2 were set to 17576055; 15166380; 17327441 Phenotypes for gene: AKT2 were set to Diabetes mellitus, type II, 125853; Severe insulin resistance, partial lipodystrophy and diabetes