Segmental overgrowth disorders - Deep sequencing

Gene: AKT1

PMID: 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

• 33030203

Green List (high evidence)

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