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 12 panels

2 reviews

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

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

Details

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

History Filter Activity

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