Segmental overgrowth disorders

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
  • Expert Review Green
  • UKGTN
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Expert Review
Phenotypes
  • Proteus syndrome, 176920
  • Proteus syndrome, somatic,176920
  • Macrocephaly and Overgrowth Syndromes
  • Proteus syndrome
  • Segmental Overgrowth Syndrome
Tags
mosaicism
OMIM
164730
Clinvar variants
Variants in AKT1
Penetrance
Complete
Panels with this gene

History Filter Activity

11 Apr 2017, Gel status: 4

Set Mode of Inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for AKT1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

28 Nov 2016, Gel status: 4

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

28 November 2016: Reviews were assessed, and panel was revised according to expert review and additional curation.

15 Nov 2016, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Green List (High Evidence).

7 Nov 2016, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

AKT1 was added to Regional overgrowth disorderspanel. Source: UKGTN

7 Nov 2016, Gel status: 2

Added New Source

Rebecca Foulger (Genomics England curator)

AKT1 was added to Regional overgrowth disorderspanel. Source: Emory Genetics Laboratory

7 Nov 2016, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

AKT1 was added to Regional overgrowth disorderspanel. Source: Radboud University Medical Center, Nijmegen

7 Nov 2016, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

AKT1 was added to Regional overgrowth disorderspanel. Sources: Expert Review

7 Nov 2016, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

AKT1 was created by rfoulger