Neurological segmental overgrowth
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, 3:25 p.m. | Last Modified: 6 Jan 2021, 3:25 p.m.
Panel Version: 1.6
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
Phenotypes for gene: AKT1 were changed from Proteus syndrome, 176920; Proteus syndrome, somatic,176920; Macrocephaly and Overgrowth Syndromes; Segmental Overgrowth Syndrome; Proteus syndrome to Proteus syndrome, somatic, OMIM:176920; Macrocephaly and Overgrowth Syndromes; Segmental Overgrowth Syndrome; Proteus syndrome
Publications for gene: AKT1 were set to
gene: AKT1 was added gene: AKT1 was added to Neurological segmental overgrowth. Sources: Expert Review Green Mode of inheritance for gene: AKT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: AKT1 were set to Proteus syndrome, 176920; Proteus syndrome, somatic,176920; Macrocephaly and Overgrowth Syndromes; Segmental Overgrowth Syndrome; Proteus syndrome