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Intellectual disability syndromic and non-syndromic

Gene: AKT3

Green List (high evidence)

AKT3 (AKT serine/threonine kinase 3)
EnsemblGeneIds (GRCh38): ENSG00000117020
EnsemblGeneIds (GRCh37): ENSG00000117020
OMIM: 611223, Gene2Phenotype
AKT3 is in 18 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

MPPH2 is an overgrowth syndrome comprising megalencephaly, hydrocephalus, and polymicrogyria; polydactyly may also be seen. Intellectual disability is a feature of the condition.

Multiple individuals reported.
Created: 21 Oct 2022, 1:44 a.m. | Last Modified: 21 Oct 2022, 1:44 a.m.
Panel Version: 0.5000

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, MIM# 615937

Publications

History Filter Activity

21 Oct 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: akt3 has been classified as Green List (High Evidence).

21 Oct 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: AKT3 were changed from to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, MIM# 615937

21 Oct 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: AKT3 were set to

21 Oct 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: AKT3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: AKT3 was added gene: AKT3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: AKT3 was set to Unknown