Familial diabetes
Gene: SLC2A2EnsemblGeneIds (GRCh38): ENSG00000163581
EnsemblGeneIds (GRCh37): ENSG00000163581
OMIM: 138160, Gene2Phenotype
SLC2A2 is in 14 panels
3 reviews
Ivone Leong (Genomics England Curator)
Gene changed to grey status after consultation with Professor Sian Ellard (South West GLH) that this gene is not appropriate for the panel.Created: 25 Jan 2019, 11:49 a.m.
Sian Ellard (University of Exeter Medical School)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
Comment on mode of inheritance: As suggested by reviewer.Created: 7 Jun 2016, 9:54 a.m.
Comment on list classification: Promoted to green due to expert review, and current diagnostic. Much evidence for association with Fanconi-Bickel syndrome.Created: 7 Jun 2016, 9:53 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- UKGTN
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- {Diabetes mellitus, noninsulin-dependent}
- Fanconi-Bickel syndrome
- OMIM
- 138160
- Clinvar variants
- Variants in SLC2A2
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- DDG2P
- Multi-organ autoimmune diabetes
- Monogenic diabetes
- Renal tubulopathies
- Ketotic hypoglycaemia
- Glycogen storage disease
- Fetal anomalies
- Undiagnosed metabolic disorders
- Familial diabetes
- Neonatal diabetes
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
History Filter Activity
Clear Sources
Eleanor Williams (Genomics England Curator)Source: Expert Review Removed was removed from gene: SLC2A2
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Ellen McDonagh (Genomics England Curator)Publications for SLC2A2 were set to PMID: 23456528; 22660720; 22831748
Set publications
Ellen McDonagh (Genomics England Curator)Publications for SLC2A2 were set to PMID: 23456528; 22660720
Set publications
Ellen McDonagh (Genomics England Curator)Publications for SLC2A2 were set to PMID: 23456528
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for SLC2A2 was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for SLC2A2 were set to {Diabetes mellitus, noninsulin-dependent}; Fanconi-Bickel syndrome
Added New Source
GEL ()SLC2A2 was added to Familial diabetespanel. Sources: UKGTN
Added New Source
GEL ()SLC2A2 was added to Familial diabetespanel. Sources: Radboud University Medical Center, Nijmegen