Monogenic 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 Removed
- Phenotypes
-
- {Diabetes mellitus, noninsulin-dependent}
- Fanconi-Bickel syndrome
- Fanconi-Bickel syndrome, 227810
- Tags
- OMIM
- 138160
- Clinvar variants
- Variants in SLC2A2
- Penetrance
- None
- 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
Added Tag
Arina Puzriakova (Genomics England Curator)Tag curated_removed tag was added to gene: SLC2A2.
Panel promoted to version 1.0
Ivone Leong (Genomics England Curator)Ivone Leong: Gene changed to grey status af
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert Review Removed was added to SLC2A2. Rating Changed from Green List (high evidence) to No List (delete)
Set Phenotypes, Set publications
Ellen McDonagh (Genomics England Curator)Added phenotypes {Diabetes mellitus, noninsulin-dependent}; Fanconi-Bickel syndrome for gene: SLC2A2 Publications for gene SLC2A2 were changed from 22831748; 23456528; 22660720 to 22831748; PMID: 23456528; 22660720
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: SLC2A2 was added gene: SLC2A2 was added to Monogenic diabetes. Sources: Expert Review Green Mode of inheritance for gene: SLC2A2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC2A2 were set to 22831748; 23456528; 22660720 Phenotypes for gene: SLC2A2 were set to {Diabetes mellitus, noninsulin-dependent}; Fanconi-Bickel syndrome; Fanconi-Bickel syndrome, 227810