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  3. AKT3
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Neurological segmental overgrowth

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, 8:34 a.m.
Created: 5 May 2017, 8:34 a.m.

Panel version: Imported from Segmental overgrowth disorders panel version 1.2

Richard Scott (North Thames GMC/UCL)

Green List (high evidence)

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

Phenotypes
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, 615937; MPPH2; Macrocephaly and Overgrowth Syndromes; Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 2

Created: 15 Nov 2016, 10:37 a.m.

Panel version: Imported from Segmental overgrowth disorders panel version 0.10

Rebecca Foulger (Genomics England curator)

Comment when marking as ready: AKT3 rated as green based on expert review and confirmed DD gene.
Created: 15 Nov 2016, 11:47 a.m.
Comment on list classification: Updated rating from Amber to Green because AKT3 in original list provided by Richard Scott.
Created: 7 Nov 2016, 2:45 p.m.
Created: 7 Nov 2016, 2:45 p.m.

Panel version: Imported from Segmental overgrowth disorders panel version 0.2

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, OMIM:615937
  • Macrocephaly and Overgrowth Syndromes
Tags
mosaicism
OMIM
611223
Clinvar variants
Variants in AKT3
Penetrance
None
Panels with this gene

History Filter Activity

9 Aug 2023, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag mosaicism tag was added to gene: AKT3.

26 Mar 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: AKT3 were changed from Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, 615937; Macrocephaly and Overgrowth Syndromes; MPPH2; Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 2 to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, OMIM:615937; Macrocephaly and Overgrowth Syndromes

31 Jul 2019, Gel status: 3

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

Louise Daugherty (Genomics England Curator)

gene: AKT3 was added gene: AKT3 was added to Neurological segmental overgrowth. Sources: Expert Review Green Mode of inheritance for gene: AKT3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: AKT3 were set to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, 615937; Macrocephaly and Overgrowth Syndromes; MPPH2; Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 2