Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders

Gene: AKT3

Amber List (moderate evidence)

AKT3 (AKT serine/threonine kinase 3)
EnsemblGeneIds (GRCh38): ENSG00000117020
EnsemblGeneIds (GRCh37): ENSG00000117020
OMIM: 611223, Gene2Phenotype
AKT3 is in 14 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Review and Green rating from Kate Tatton-Brown April 2017; Paper in press with AJHG. Likely activating mutations
Sources: Expert list
Created: 31 May 2019, 11:08 a.m.

Mode of inheritance
Other

Phenotypes
Human overgrowth syndrome type; Overgrowth with Intellectual disability

Publications

History Filter Activity

31 May 2019, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: AKT3 were set to 28475857

31 May 2019, Gel status: 2

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: akt3 has been classified as Amber List (Moderate Evidence).

31 May 2019, Gel status: 1

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

Louise Daugherty (Genomics England Curator)

gene: AKT3 was added gene: AKT3 was added to Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders. Sources: Expert list Mode of inheritance for gene: AKT3 was set to Other Publications for gene: AKT3 were set to 28475857 Phenotypes for gene: AKT3 were set to Human overgrowth syndrome type; Overgrowth with Intellectual disability Review for gene: AKT3 was set to GREEN