Segmental overgrowth disorders

Gene: AKT2

Amber List (moderate evidence)

AKT2 (AKT serine/threonine kinase 2)
EnsemblGeneIds (GRCh38): ENSG00000105221
EnsemblGeneIds (GRCh37): ENSG00000105221
OMIM: 164731, Gene2Phenotype
AKT2 is in 10 panels

1 review

Catherine Snow (Genomics England)

Comment on list classification: After consultation with Genomics England clinical team who identified AKT2 in the review paper PMID:28502730 – "4 cases summarised, they all have the same missense variant, and I can’t see if any work has been done re mechanism e.g. gain of function". Advised rating as Amber.
Created: 11 Dec 2019, 11:04 a.m. | Last Modified: 11 Dec 2019, 11:04 a.m.
Panel Version: 1.9

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Other
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hypoinsulinemic hypoglycemia with hemihypertrophy,240900
  • Hypoinsulinemic hypoglycemia with hemihypertrophy
  • HIHGHH
  • Hypoinsulinemic hypoglycemia with hemihypertrophy, 240900
OMIM
164731
Clinvar variants
Variants in AKT2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

11 Dec 2019, Gel status: 2

Set publications

Catherine Snow (Genomics England)

Publications for gene: AKT2 were set to

11 Dec 2019, Gel status: 2

Entity classified by Genomics England curator

Catherine Snow (Genomics England)

Gene: akt2 has been classified as Amber List (Moderate Evidence).

28 Nov 2016, Gel status: 1

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.

7 Nov 2016, Gel status: 1

Set Mode of Inheritance, Added New Source

Rebecca Foulger (Genomics England curator)

AKT2 was added to Regional overgrowth disorderspanel. Source: Other Model of inheritance for gene AKT2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

7 Nov 2016, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

AKT2 was added to Regional overgrowth disorderspanel. Sources: Radboud University Medical Center, Nijmegen

7 Nov 2016, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

AKT2 was created by rfoulger