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Intellectual disability

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

3 reviews

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: Changed from 'other' to monoallelic in order to be consistent with other panels this gene is present on, and enable variants in this gene to be tiered.
Created: 5 May 2017, 8:32 a.m.

Lu Raymond (university of cambridge )

Green List (high evidence)

Caroline Wright (Sanger)

Green List (high evidence)

Mechanism: Mosaic
Created: 16 Nov 2015, 11:25 a.m.

Mode of inheritance
Other - please specify in evaluation comments

Phenotypes
HEMIMEGALENCEPHALY AKT3

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome, 603387
  • HEMIMEGALENCEPHALY AKT3
Tags
mosaicism
OMIM
611223
Clinvar variants
Variants in AKT3
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

28 Sep 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to AKT3.

12 Mar 2018, Gel status: 3

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

5 May 2017, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for AKT3 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

5 Apr 2017, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for AKT3 were set to 22729224; 22500628

13 Nov 2015, Gel status: 4

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 4

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 1

Set Mode of Inheritance, Added New Source

Ellen McDonagh (Genomics England Curator)

AKT3 was added to Intellectual disabilitypanel. Source: Expert Review Green Model of inheritance for gene AKT3 was set to Other - please specify in evaluation comments

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

AKT3 was added to Intellectual disabilitypanel. Sources: Radboud University Medical Center, Nijmegen