Multi-organ autoimmune diabetes
Gene: SLC2A2EnsemblGeneIds (GRCh38): ENSG00000163581
EnsemblGeneIds (GRCh37): ENSG00000163581
OMIM: 138160, Gene2Phenotype
SLC2A2 is in 14 panels
2 reviews
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Removed due to expert review.Created: 22 Jul 2016, 3:06 p.m.
Sian Ellard (University of Exeter Medical School)
Remove gene from panelCreated: 8 Dec 2015, 2:32 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Removed
- UKGTN
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- {Diabetes mellitus, noninsulin-dependent}
- Fanconi-Bickel syndrome, 227810
- Neonatal Diabetes
- Tags
- OMIM
- 138160
- Clinvar variants
- Variants in SLC2A2
- Penetrance
- Complete
- Panels with this gene
-
- Familial diabetes
- Fetal anomalies
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Likely inborn error of metabolism
- Intellectual disability
- Undiagnosed metabolic disorders
- Neonatal diabetes
- Monogenic diabetes
- Multi-organ autoimmune diabetes
- Renal tubulopathies
- Ketotic hypoglycaemia
- Childhood onset dystonia, chorea or related movement disorder
- Glycogen storage disease
- DDG2P
History Filter Activity
Added Tag
Arina Puzriakova (Genomics England Curator)Tag curated_removed tag was added to gene: SLC2A2.
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.
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene SLC2A2 was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)SLC2A2 was added to Multi-organ autoimmune diabetespanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN
Added New Source
Ellen McDonagh (Genomics England Curator)SLC2A2 was added to Multi-organ autoimmune diabetespanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN