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Fetal anomalies
Gene: AKT1

AKT1 (AKT serine/threonine kinase 1)
EnsemblGeneIds (GRCh38): ENSG00000142208
EnsemblGeneIds (GRCh37): ENSG00000142208
OMIM: 164730, Gene2Phenotype
AKT1 is in 8 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Cowden syndrome: Two individuals reported with GoF variants, limited functional data.

Somatic variants are associated with Proteus syndrome, unlikely to be detected antenatally depending on sample type.
Created: 28 Oct 2021, 10:14 p.m. | Last Modified: 28 Oct 2021, 10:14 p.m.

Panel Version: 0.74

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cowden syndrome 6, MIM#615109; Proteus syndrome, somatic, MIM# 176920

Publications

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Created: 28 Oct 2021, 10:14 p.m.
Last Modified: 28 Oct 2021, 10:14 p.m.
Panel version: 0.74

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Genomics England PanelApp

Phenotypes

Cowden syndrome 6, MIM#615109
Proteus syndrome, somatic, MIM# 176920

OMIM

Clinvar variants

Variants in AKT1

Penetrance

None

Publications

Mode of Pathogenicity

Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Panels with this gene

History Filter Activity

28 Oct 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: AKT1 were set to 33030203l23246288; 21793738

28 Oct 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: akt1 has been classified as Green List (High Evidence).

28 Oct 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: AKT1 were changed from PROTEUS SYNDROME to Cowden syndrome 6, MIM#615109; Proteus syndrome, somatic, MIM# 176920

28 Oct 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: AKT1 were set to 33030203

28 Oct 2021, Gel status: 3

Set mode of pathogenicity

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of pathogenicity for gene: AKT1 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

28 Oct 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: AKT1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

24 Oct 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: AKT1 was added gene: AKT1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: AKT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: AKT1 were set to 33030203 Phenotypes for gene: AKT1 were set to PROTEUS SYNDROME