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DDG2P

Gene: AKT3

Green List (high evidence)
AKT3 (AKT serine/threonine kinase 3)
EnsemblGeneIds (GRCh38): ENSG00000117020
EnsemblGeneIds (GRCh37): ENSG00000117020
OMIM: 611223, Gene2Phenotype
AKT3 is in 13 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for AKT3-related hemimegalencephaly are strong, monoallelic_autosomal and undetermined (PMIDs: 22500628, 22729224). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01092.
Created: 13 Feb 2026, 9:25 p.m. | Last Modified: 13 Feb 2026, 9:25 p.m.
Panel Version: 6.17
The DDG2P confidence category for the disease HEMIMEGALENCEPHALY AKT3, OMIM:603387 is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMIDs: 22500628;22729224).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
AKT3-related hemimegalencephaly; OMIM:603387.0; HEMIMEGALENCEPHALY AKT3, OMIM:603387; MONDO:0011313

Publications

Mode of pathogenicity
Other

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 4 Oct 2023, 5:08 p.m.
Panel version: 6.17

Rebecca Foulger (Genomics England curator)

I don't know

Mosaicism tag added: In DD-G2P download, mosaic MOI listed for HEMIMEGALENCEPHALY AKT3 603387.
Created: 19 Nov 2018, 1:19 p.m.
Original DDG2P rating: probable. DDG2P mode of pathogenicity: all missense/in frame. Mosaic MOI listed in DD-G2P download.
Created: 19 Nov 2018, 11:29 a.m.
Created: 19 Nov 2018, 11:29 a.m.

Panel version: 0.3

History Filter Activity

13 Feb 2026, Gel status: 3

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene: AKT3 was changed from Other to None

4 Oct 2023, Gel status: 3

Added New Source, Set mode of pathogenicity, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Green was added to AKT3. Mode of pathogenicity for gene AKT3 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

29 Jan 2019, Gel status: 2

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: probabl

19 Nov 2018, Gel status: 2

Added Tag

Rebecca Foulger (Genomics England curator)

Tag mosaicism tag was added to gene: AKT3.

19 Nov 2018, Gel status: 2

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

Rebecca Foulger (Genomics England curator)

gene: AKT3 was added gene: AKT3 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: AKT3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: AKT3 were set to 22500628; 22729224 Phenotypes for gene: AKT3 were set to HEMIMEGALENCEPHALY AKT3 603387 Mode of pathogenicity for gene: AKT3 was set to Other - please provide details in the comments