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  2. Lipodystrophy_Lipoatrophy
  3. AKT2
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Lipodystrophy_Lipoatrophy

Gene: AKT2

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Lipodystrophy is a feature.
Created: 26 Feb 2021, 10:06 a.m. | Last Modified: 26 Feb 2021, 10:06 a.m.
Panel Version: 0.18

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Hypoinsulinemic hypoglycemia with hemihypertrophy 240900

Publications

Created: 26 Feb 2021, 10:06 a.m.
Last Modified: 26 Feb 2021, 10:06 a.m.
Panel version: 0.18

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hypoinsulinemic hypoglycemia with hemihypertrophy 240900
OMIM
164731
Clinvar variants
Variants in AKT2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

26 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: akt2 has been classified as Green List (High Evidence).

26 Feb 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: AKT2 were changed from to Hypoinsulinemic hypoglycemia with hemihypertrophy 240900

26 Feb 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: AKT2 were set to

26 Feb 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: AKT2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: AKT2 was added gene: AKT2 was added to Lipodystrophy / Lipoatrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: AKT2 was set to Unknown