Segmental overgrowth disordersGene: AKT2
Comment on list classification: After consultation with Genomics England clinical team who identified AKT2 in the review paper PMID:28502730 – "4 cases summarised, they all have the same missense variant, and I can’t see if any work has been done re mechanism e.g. gain of function". Advised rating as Amber.
Created: 11 Dec 2019, 11:04 a.m. | Last Modified: 11 Dec 2019, 11:04 a.m.
Panel Version: 1.9
Publications for gene: AKT2 were set to
Gene: akt2 has been classified as Amber List (Moderate Evidence).
28 November 2016: Reviews were assessed, and panel was revised according to expert review and additional curation.
AKT2 was added to Regional overgrowth disorderspanel. Source: Other Model of inheritance for gene AKT2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
AKT2 was added to Regional overgrowth disorderspanel. Sources: Radboud University Medical Center, Nijmegen
AKT2 was created by rfoulger