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  3. AKT3
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Malformations of cortical development

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)

Added tag to reflect mosaicism.
Created: 5 May 2017, 8:33 a.m.
Created: 5 May 2017, 8:33 a.m.

Panel version: 1.116

Alice Gardham (Genomics England)

Comment when marking as ready: usually germline mutations but can be somatic mosaic
Created: 15 Dec 2016, 3:38 p.m.
Created: 15 Dec 2016, 3:38 p.m.

Panel version: 1.21

Usha Kini (Oxford Centre for Genomic Medicine)

Green List (high evidence)

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

Phenotypes
Polymicrogyria, macrocephaly

Variants in this GENE are reported as part of current diagnostic practice

Created: 8 Dec 2016, 11:39 a.m.

Panel version: 1.5

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, OMIM:615937
Tags
mosaicism
OMIM
611223
Clinvar variants
Variants in AKT3
Penetrance
Complete
Panels with this gene

History Filter Activity

9 Aug 2023, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: AKT3 were changed from Polymicrogyria, macrocephaly to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, OMIM:615937

15 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

15 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

15 Dec 2016, Gel status: 0

Upload gene information

Alice Gardham (Genomics England)

AKT3 was added to Malformations of cortical developmentpanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen

8 Dec 2016, Gel status: 0

Created

Usha Kini (Oxford Centre for Genomic Medicine)

AKT3 was created by Ushak

8 Dec 2016, Gel status: 0

Added New Source

Usha Kini (Oxford Centre for Genomic Medicine)

AKT3 was added to Malformations of cortical developmentpanel. Sources: Expert Review