Ketotic hypoglycaemia

Gene: SLC2A2

Green List (high evidence)

SLC2A2 (solute carrier family 2 member 2)
EnsemblGeneIds (GRCh38): ENSG00000163581
EnsemblGeneIds (GRCh37): ENSG00000163581
OMIM: 138160, Gene2Phenotype
SLC2A2 is in 15 panels

2 reviews

Alexander Broomfield (Central Manchester Foundation Trust)

Green List (high evidence)

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

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