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Limb disorders

Gene: AKT3

Red List (low evidence)

AKT3 (AKT serine/threonine kinase 3)
EnsemblGeneIds (GRCh38): ENSG00000117020
EnsemblGeneIds (GRCh37): ENSG00000117020
OMIM: 611223, Gene2Phenotype
AKT3 is in 11 panels

1 review

Eleanor Williams (Genomics England Curator)

Comment when marking as ready: Rated red based on feedback from Genomics England Clinical Team
Created: 16 Oct 2018, 3:03 p.m.
Comment on list classification: Rating as red. Insufficient evidence for AKT3 association with polydactyly.
Created: 2 Oct 2018, 3:52 p.m.
Consulting with the Genomics England clinical team as to the appropriate rating of this gene.
Created: 26 Sep 2018, 4:31 p.m.
AKT3 is associated with Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 in OMIM. Mirzaa et al 2013 (PMID: 23592320) state that in MPPH postaxial polydactyly is reported in almost half of individuals but not in any of the cases below reported with MPPH as a result of AKT3.

Riviere et al. (2012) (PMID: 22729224) report different de novo mutations in AKT3 in 2 unrelated individuals with MPPH but neither had synodactyly or polydactyly. Nakamura et al. (2014) (PMID: 23745724) identified a de novo heterozygous N229S mutation in a 2-month-old boy with macrocephaly, cutis marmorata of the distal extremities, and hyperextensibility of the skin (no polydactyly or syndactyly). The phenotype was compatible with megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP); however, the patient had only a skin capillary malformation. Nakamura et al. (2014) concluded that MPPH and MCAP show significant phenotypic overlap and have a common genetic basis.

Poduri et al. (2012) (PMID: 22500628) and Lee et al. (2012) (PMID: 22729223) report cases of somatic AKT3 duplications or variants in patients with hemimegalencephaly (HME).
Created: 26 Sep 2018, 3:44 p.m.

Phenotypes
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 615937

Publications

History Filter Activity

11 Dec 2018, Gel status: 1

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Eleanor Williams: AKT3 is associated with Megale

16 Oct 2018, Gel status: 1

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: akt3 has been classified as Red List (Low Evidence).

16 Oct 2018, Gel status: 1

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: AKT3 were changed from Polydactyly to Polydactyly; Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 615937

16 Oct 2018, Gel status: 1

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: AKT3 were set to

2 Oct 2018, Gel status: 1

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: akt3 has been classified as Red List (Low Evidence).

13 Aug 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

AKT3 was added to Limb disorders panel. Sources: Victorian Clinical Genetics Services

13 Aug 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

AKT3 was created by Ellen McDonagh