Segmental overgrowth disorders

Gene: AKT3

Green List (high evidence)

AKT3 (AKT serine/threonine kinase 3)
EnsemblGeneIds (GRCh38): ENSG00000117020
EnsemblGeneIds (GRCh37): ENSG00000117020
OMIM: 611223, Gene2Phenotype
AKT3 is in 13 panels

3 reviews

Ellen McDonagh (Genomics England Curator)

Added tag to reflect mosaicism.
Created: 5 May 2017, 8:34 a.m.

Richard Scott (North Thames GMC/UCL)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, 615937; MPPH2; Macrocephaly and Overgrowth Syndromes; Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 2

Rebecca Foulger (Genomics England curator)

Comment when marking as ready: AKT3 rated as green based on expert review and confirmed DD gene.
Created: 15 Nov 2016, 11:47 a.m.
Comment on list classification: Updated rating from Amber to Green because AKT3 in original list provided by Richard Scott.
Created: 7 Nov 2016, 2:45 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Emory Genetics Laboratory
  • Expert Review
Phenotypes
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, 615937
  • MPPH2
  • Macrocephaly and Overgrowth Syndromes
  • Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 2
Tags
mosaicism
OMIM
611223
Clinvar variants
Variants in AKT3
Penetrance
Complete
Panels with this gene

History Filter Activity

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).

15 Nov 2016, Gel status: 4

Set Mode of Inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for AKT3 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

8 Nov 2016, Gel status: 4

Upload gene information

Rebecca Foulger (Genomics England curator)

AKT3 was added to Regional overgrowth disorderspanel. Sources: Radboud University Medical Center, Nijmegen

7 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: 2

Added New Source

Rebecca Foulger (Genomics England curator)

AKT3 was added to Regional overgrowth disorderspanel. Source: UKGTN

7 Nov 2016, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

AKT3 was added to Regional overgrowth disorderspanel. Source: Emory Genetics Laboratory

7 Nov 2016, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

AKT3 was added to Regional overgrowth disorderspanel. Sources: Expert Review

7 Nov 2016, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

AKT3 was created by rfoulger