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Neurological segmental overgrowth

Gene: AKT1

Green List (high evidence)
AKT1 (AKT serine/threonine kinase 1)
EnsemblGeneIds (GRCh38): ENSG00000142208
EnsemblGeneIds (GRCh37): ENSG00000142208
OMIM: 164730, Gene2Phenotype
AKT1 is in 11 panels

3 reviews

Eleanor Williams (Genomics England Curator)

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, 3:25 p.m. | Last Modified: 6 Jan 2021, 3:25 p.m.
Panel Version: 1.6

Publications

Created: 6 Jan 2021, 3:25 p.m.
Last Modified: 6 Jan 2021, 3:25 p.m.
Panel version: 1.6

Richard Scott (North Thames GMC/UCL)

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

Created: 15 Nov 2016, 10:37 a.m.

Panel version: Imported from Segmental overgrowth disorders panel version 0.10

Rebecca Foulger (Genomics England curator)

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

Created: 7 Nov 2016, 2:39 p.m.

Panel version: Imported from Segmental overgrowth disorders panel version 0.1

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Proteus syndrome, somatic, OMIM:176920
  • Macrocephaly and Overgrowth Syndromes
  • Segmental Overgrowth Syndrome
  • Proteus syndrome
OMIM
164730
Clinvar variants
Variants in AKT1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

26 Mar 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

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

6 Jan 2021, Gel status: 3

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: AKT1 were set to

31 Jul 2019, Gel status: 3

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

Louise Daugherty (Genomics England Curator)

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