Ketotic hypoglycaemia
Gene: SLC2A2
SLC2A2 (solute carrier family 2 member 2)
EnsemblGeneIds (GRCh38): ENSG00000163581
EnsemblGeneIds (GRCh37): ENSG00000163581
OMIM: 138160, Gene2Phenotype
SLC2A2 is in 14 panels
EnsemblGeneIds (GRCh38): ENSG00000163581
EnsemblGeneIds (GRCh37): ENSG00000163581
OMIM: 138160, Gene2Phenotype
SLC2A2 is in 14 panels
2 reviews
Alexander Broomfield (Central Manchester Foundation Trust)
Ellen McDonagh (Genomics England Curator)
Comment on mode of inheritance: Source: G2P and OMIM.Created: 6 Apr 2016, 10:15 a.m.
Comment on list classification: Promoted from amber to green due to expert review, and evidence on OMIM for association with Fanconi-Bickel syndrome (glycogen storage disease XI) which includes hypoglycaemia. Confirmed DD gene for Fanconi-Bickel syndrome.Created: 6 Apr 2016, 10:15 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- UKGTN
- Emory Genetics Laboratory
- Phenotypes
-
- renal falcon syndrome, aminoaciduria phosphaturia, small stature, malabsorption, hepatomegaly and nephromegaly.
- Glycogen Storage Disorders- Liver
- Fanconi-Bickel Syndrome
- OMIM
- 138160
- Clinvar variants
- Variants in SLC2A2
- Penetrance
- Complete
- 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
8 Jun 2016, Gel status: 4
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
6 Apr 2016, Gel status: 4
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for SLC2A2 was changed to BIALLELIC, autosomal or pseudoautosomal
6 Apr 2016, Gel status: 4
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
19 Oct 2015, Gel status: 2
Approved Gene
Ellen McDonagh (Genomics England Curator)This proposed gene was validated and added to this panel
19 Oct 2015, Gel status: 2
Added New Source
Ellen McDonagh (Genomics England Curator)SLC2A2 was added to Ketotic hypoglycaemiapanel. Source: UKGTN
19 Oct 2015, Gel status: 0
Added New Source
Alexander Broomfield (Central Manchester Foundation Trust)SLC2A2 was added to Ketotic hypoglycaemiapanel. Sources: Literature