Multi-organ autoimmune diabetes
Gene: AKT2EnsemblGeneIds (GRCh38): ENSG00000105221
EnsemblGeneIds (GRCh37): ENSG00000105221
OMIM: 164731, Gene2Phenotype
AKT2 is in 12 panels
2 reviews
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Removed due to expert review.Created: 22 Jul 2016, 3:08 p.m.
Sian Ellard (University of Exeter Medical School)
Remove gene from panelCreated: 8 Dec 2015, 2:32 p.m.
Details
- Sources
-
- Expert Review Removed
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Diabetes mellitus, type II, 125853
- Hypoinsulinemic hypoglycemia with hemihypertrophy, 240900
- Tags
- OMIM
- 164731
- Clinvar variants
- Variants in AKT2
- Penetrance
- Complete
- Panels with this gene
-
- Segmental overgrowth disorders - Deep sequencing
- DDG2P
- Multi-organ autoimmune diabetes
- Monogenic 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
History Filter Activity
Added Tag
Arina Puzriakova (Genomics England Curator)Tag curated_removed tag was added to gene: AKT2.
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)25th July 2016: Panel revised acccording to expert review, further evidence sources and comparison with the Familial Diabetes version 1 panel. Promoted to version 1.
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been removed from the panel.
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been removed from the panel.
Added New Source
Ellen McDonagh (Genomics England Curator)AKT2 was added to Multi-organ autoimmune diabetespanel. Sources: Radboud University Medical Center, Nijmegen