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Fetal anomalies

Gene: AKT2

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

2 reviews

Arina Puzriakova (Genomics England Curator)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 3 Mar 2022, 11:19 a.m. | Last Modified: 3 Mar 2022, 11:19 a.m.
Panel Version: 1.836
Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Created: 29 Jan 2021, 10:17 a.m. | Last Modified: 29 Jan 2021, 10:17 a.m.
Panel Version: 1.216
Created: 29 Jan 2021, 10:17 a.m.
Last Modified: 29 Jan 2021, 10:17 a.m.
Panel version: 1.836

Rhiannon Mellis (Great Ormond Street Hospital)

Green List (high evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other PanelApp panel (BWS and Overgrowth panel). Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.
Sources: Literature
Created: 28 Jan 2021, 10:03 a.m.

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

Phenotypes
Hypoinsulinemic hypoglycemia with hemihypertrophy

Created: 28 Jan 2021, 10:03 a.m.

Panel version: 1.185

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Hypoinsulinemic hypoglycemia with hemihypertrophy, OMIM:240900
  • Hypoinsulinemic hypoglycemia and body hemihypertrophy, MONDO:0009416
OMIM
164731
Clinvar variants
Variants in AKT2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Mar 2022, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review was removed from gene: AKT2.

3 Mar 2022, Gel status: 3

Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source Expert Review Green was added to AKT2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

29 Jan 2021, Gel status: 2

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: AKT2 were set to

29 Jan 2021, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: AKT2 were changed from Hypoinsulinemic hypoglycemia with hemihypertrophy to Hypoinsulinemic hypoglycemia with hemihypertrophy, OMIM:240900; Hypoinsulinemic hypoglycemia and body hemihypertrophy, MONDO:0009416

29 Jan 2021, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

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

29 Jan 2021, Gel status: 0

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review tag was added to gene: AKT2.

28 Jan 2021, Gel status: 0

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

Rhiannon Mellis (Great Ormond Street Hospital)

gene: AKT2 was added gene: AKT2 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: AKT2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: AKT2 were set to Hypoinsulinemic hypoglycemia with hemihypertrophy Review for gene: AKT2 was set to GREEN