Segmental overgrowth disorders - Deep sequencing
Gene: AKT1PMID: 33030203 - Lindhurst et al 2020 - mouse model ubiquitously expressing the AKT1 c.49G > A, p.(E17K) activating variant associated with Proteus syndrome (with mosaic expression of the variant). Lethality was observed with a variation in severity of phenotypes. They conclude that ubiquitous expression of Akt1E17K suppresses remodeling and inhibits the formation of a normal skin vasculature and suggest that this prevents proper circulation necessary to support the growing embryo.Created: 6 Jan 2021, 3:21 p.m. | Last Modified: 6 Jan 2021, 3:21 p.m.
Panel Version: 2.8
Publications
Mode of inheritance
Other - please specify in evaluation comments
Phenotypes
Proteus syndrome, 176920; Proteus syndrome, somatic,176920; Macrocephaly and Overgrowth Syndromes; Proteus syndrome; Segmental Overgrowth Syndrome
Comment on mode of inheritance: Changed MOI from 'Other' to 'monoallelic' following discussion with clinical team.Created: 11 Apr 2017, 1:33 p.m.
Comment when marking as ready: AKT1 rated as green based on expert review and confirmed DD gene.Created: 15 Nov 2016, 11:47 a.m.
Proteus syndrome is associated with mosaicism for a somatic activating mutation in the AKT1 gene.Created: 7 Nov 2016, 2:39 p.m.
Mode of inheritance
Other
Publications for gene: AKT1 were set to
Mode of inheritance for AKT1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
28 November 2016: Reviews were assessed, and panel was revised according to expert review and additional curation.
This gene has been classified as Green List (High Evidence).
AKT1 was added to Regional overgrowth disorderspanel. Source: UKGTN
AKT1 was added to Regional overgrowth disorderspanel. Source: Emory Genetics Laboratory
AKT1 was added to Regional overgrowth disorderspanel. Source: Radboud University Medical Center, Nijmegen
AKT1 was added to Regional overgrowth disorderspanel. Sources: Expert Review
AKT1 was created by rfoulger