Renal tubulopathies
Gene: SLC2A2EnsemblGeneIds (GRCh38): ENSG00000163581
EnsemblGeneIds (GRCh37): ENSG00000163581
OMIM: 138160, Gene2Phenotype
SLC2A2 is in 14 panels
4 reviews
Eleanor Williams (Genomics England Curator)
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 8 Mar 2022, 11:45 a.m. | Last Modified: 8 Mar 2022, 11:45 a.m.
Panel Version: 2.32
Arina Puzriakova (Genomics England Curator)
Comment on list classification: Changed rating to Amber so that Green genes on this panel reflect the NHS signed-off version, will be examined at next panel review.Created: 16 Oct 2020, 11:03 a.m. | Last Modified: 16 Oct 2020, 11:03 a.m.
Panel Version: 2.22
Catherine Snow (Genomics England)
Comment on list classification: SLC2A2 (GLUT2) associated with Fanconi-Bickel syndrome which includes renal tubular dysfunction. Sufficient number of unrelated individuals reported to classify as Green. Identified in PMID: 32150856 as missing from the panel in 27/02/2020.Created: 23 Mar 2020, 12:32 p.m. | Last Modified: 23 Mar 2020, 12:32 p.m.
Panel Version: 2.7
Zornitza Stark (Australian Genomics)
Well established renal tubulopathy gene.
Sources: Expert listCreated: 23 Jan 2020, 3:50 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fanconi-Bickel syndrome, MIM# 227810
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Fanconi-Bickel syndrome, OMIM:227810
- OMIM
- 138160
- Clinvar variants
- Variants in SLC2A2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Familial diabetes
- Fetal anomalies
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Likely inborn error of metabolism
- Undiagnosed metabolic disorders
- Neonatal diabetes
- Monogenic diabetes
- Intellectual disability
- Multi-organ autoimmune diabetes
- Renal tubulopathies
- Ketotic hypoglycaemia
- Childhood onset dystonia, chorea or related movement disorder
- Glycogen storage disease
- DDG2P
History Filter Activity
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for gene: SLC2A2 were changed from Fanconi-Bickel syndrome, MIM# 227810 to Fanconi-Bickel syndrome, OMIM:227810
Removed Tag
Eleanor Williams (Genomics England Curator)Tag for-review was removed from gene: SLC2A2.
Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source Expert Review Green was added to SLC2A2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: slc2a2 has been classified as Amber List (Moderate Evidence).
Added Tag
Eleanor Williams (Genomics England Curator)Tag for-review tag was added to gene: SLC2A2.
Entity classified by Genomics England curator
Catherine Snow (Genomics England)Gene: slc2a2 has been classified as Green List (High Evidence).
Set publications
Catherine Snow (Genomics England)Publications for gene: SLC2A2 were set to 32150856; 24175243
Set publications
Catherine Snow (Genomics England)Publications for gene: SLC2A2 were set to
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Australian Genomics)gene: SLC2A2 was added gene: SLC2A2 was added to Renal tubulopathies. Sources: Expert list Mode of inheritance for gene: SLC2A2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC2A2 were set to Fanconi-Bickel syndrome, MIM# 227810 Review for gene: SLC2A2 was set to GREEN