Mosaic skin disorders - deep sequencing

Gene: AKT2

No list

AKT2 (AKT serine/threonine kinase 2)
EnsemblGeneIds (GRCh38): ENSG00000105221
EnsemblGeneIds (GRCh37): ENSG00000105221
OMIM: 164731, Gene2Phenotype
AKT2 is in 12 panels

3 reviews

Arina Puzriakova (Genomics England Curator)

At least three unrelated families reported with the same activating mosaic c.49G>A (p.E17K) variant in the AKT2 gene. However, I could not find any evidence of dermatological involvement. The phenotype is more fitting with the R110 Segmental overgrowth disorders - Deep sequencing panel (curated and to be included in next GMS review). Therefore it seems appropriate to not include the AKT2 gene on this particular panel (maintaining Grey rating).
Created: 3 Oct 2023, 11:07 a.m. | Last Modified: 3 Oct 2023, 11:07 a.m.
Panel Version: 2.37

Tom Cullup (Great Ormond Street Hospital)

Green List (high evidence)

Hot-spot variant Glu17Lys reported multiple times de novo, at least twice mosaic (21979934; 24285683)
Created: 3 May 2023, 3:46 p.m. | Last Modified: 3 May 2023, 3:46 p.m.
Panel Version: 2.1

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
hypoinsulinemic hypoglycemia with hemihypertrophy (HIHGHH) (MIM 240900)

Publications

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene was part of an initial gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 25.Jan.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted: AKT2; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.
Created: 31 Jan 2019, 2:50 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Removed
  • London North GLH
  • NHS GMS
Phenotypes
  • Hypoinsulinemic hypoglycemia with hemihypertrophy, OMIM:240900
Tags
curated_removed
OMIM
164731
Clinvar variants
Variants in AKT2
Penetrance
None
Publications
Mode of Pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Panels with this gene

History Filter Activity

3 Oct 2023, Gel status: 0

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: AKT2 were set to

3 Oct 2023, Gel status: 0

Set mode of pathogenicity

Arina Puzriakova (Genomics England Curator)

Mode of pathogenicity for gene: AKT2 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

3 Oct 2023, Gel status: 0

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: AKT2 were changed from Overgrowth syndrome (not always mosaic in this case) to Hypoinsulinemic hypoglycemia with hemihypertrophy, OMIM:240900

26 Feb 2021, Gel status: 0

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag curated_removed tag was added to gene: AKT2.

5 Dec 2019, Gel status: 0

Added New Source, Status Update

Catherine Snow (Genomics England)

Source Expert Review Removed was added to AKT2. Rating Changed from Green List (high evidence) to No List (delete)

18 Feb 2019, Gel status: 4

Added New Source

Rebecca Foulger (Genomics England curator)

Source London North GLH was added to AKT2.

31 Jan 2019, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: AKT2 was added gene: AKT2 was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: AKT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: AKT2 were set to Overgrowth syndrome (not always mosaic in this case)