Congenital hyperinsulinism
Gene: AKT2EnsemblGeneIds (GRCh38): ENSG00000105221
EnsemblGeneIds (GRCh37): ENSG00000105221
OMIM: 164731, Gene2Phenotype
AKT2 is in 12 panels
4 reviews
Arina Puzriakova (Genomics England Curator)
As the recommendation is to demote AKT2 from Green to Amber on this panel, the to_be_confirmed_NHSE tag has been added, as further NHSE review is required.Created: 31 Jan 2023, 4:38 p.m. | Last Modified: 31 Jan 2023, 4:38 p.m.
Panel Version: 2.32
Zornitza Stark (Australian Genomics)
I am confused about the inclusion of this gene: phenotype appears specifically to be HYPOinsulinaemia.Created: 14 Feb 2020, 7:50 a.m. | Last Modified: 14 Feb 2020, 7:50 a.m.
Panel Version: 2.1
Jayne Houghton (Royal Devon and Exeter Foundation Trust)
ActivatingCreated: 25 Jan 2019, 10:11 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
hypoinsulinemic hypoketotic hypoglycemia
Publications
Variants in this GENE are reported as part of current diagnostic practice
Ivone Leong (Genomics England Curator)
Comment on mode of pathogenicity: Variants in this gene has an activating effect.Created: 5 Feb 2019, 1:10 p.m.
Comment on list classification: Promoted from red to green as recommended by Jayne Houghton (South West GLH). PMID: 21979934 shows 3 unrelated children with the same missense variant in AKT2. In vitro cell studies showed that the variant has an activating effect. PMID: 24285683 describes another case of an unrelated patient with the same missense variant as PMID: 21979934.
Created: 28 Jan 2019, 11:29 a.m.
Initial gene list and info collated by Sian Ellard, University of Exeter Medical School, August 2018 on behalf of the GMS Endocrinology specialist test group. Gene Symbol submitted: AKT2; Suggested intial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given; Phenotypes: Autosomal dominant fasting hypoglycaemia and asymmetrical overgrowth.Created: 11 Jan 2019, 2:24 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Hypoinsulinemic hypoglycemia with hemihypertrophy, OMIM:240900
- Hypoinsulinemic hypoglycemia and body hemihypertrophy, MONDO:0009416
- Tags
- 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
-
- Segmental overgrowth disorders - Deep sequencing
- DDG2P
- Multi-organ autoimmune diabetes
- Lipodystrophy - childhood onset
- Insulin resistance (including lipodystrophy)
- Mosaic skin disorders - deep sequencing
- Fetal anomalies
- Familial diabetes
- Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
- Neurological segmental overgrowth
- Congenital hyperinsulinism
- Monogenic diabetes
History Filter Activity
Removed Tag, Removed Tag, Removed Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q4_21_expert_review was removed from gene: AKT2. Tag Q4_21_rating was removed from gene: AKT2. Tag Q4_21_phenotype was removed from gene: AKT2.
Added Tag
Arina Puzriakova (Genomics England Curator)Tag to_be_confirmed_NHSE tag was added to gene: AKT2.
Removed Tag, Added Tag
Eleanor Williams (Genomics England Curator)Tag Q4_22_rating was removed from gene: AKT2. Tag Q4_21_rating tag was added to gene: AKT2.
Added Tag
Eleanor Williams (Genomics England Curator)Tag Q4_22_rating tag was added to gene: AKT2.
Added Tag
Ivone Leong (Genomics England Curator)Tag Q4_21_phenotype tag was added to gene: AKT2.
Added Tag
Ivone Leong (Genomics England Curator)Tag Q4_21_expert_review tag was added to gene: AKT2.
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: AKT2 were changed from hypoinsulinemic hypoketotic hypoglycemia, 240900; Autosomal dominant fasting hypoglycaemia and asymmetrical overgrowth to Hypoinsulinemic hypoglycemia with hemihypertrophy, OMIM:240900; Hypoinsulinemic hypoglycemia and body hemihypertrophy, MONDO:0009416
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: AKT2 were changed from hypoinsulinemic hypoketotic hypoglycemia to hypoinsulinemic hypoketotic hypoglycemia, 240900; Autosomal dominant fasting hypoglycaemia and asymmetrical overgrowth
Set mode of pathogenicity
Ivone Leong (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
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: akt2 has been classified as Green List (High Evidence).
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: AKT2 were set to
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: AKT2 were changed from to hypoinsulinemic hypoketotic hypoglycemia
Set mode of inheritance
Ivone Leong (Genomics England Curator)Mode of inheritance for gene: AKT2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Created, Added New Source, Set mode of inheritance
Ivone Leong (Genomics England Curator)gene: AKT2 was added gene: AKT2 was added to Congenital hyperinsulinism. Sources: NHS GMS Mode of inheritance for gene: AKT2 was set to