Renal Tubulopathies and related disorders
Gene: SLC2A2

SLC2A2 (solute carrier family 2 member 2)
EnsemblGeneIds (GRCh38): ENSG00000163581
EnsemblGeneIds (GRCh37): ENSG00000163581
OMIM: 138160, Gene2Phenotype
SLC2A2 is in 10 panels

1 review

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

> 5 patients previously reported with the associated condition, which is a glycogen storage disease. SLC2A2 encodes for the glucose transporter, GLUT2. Presents with proximal renal tubular dysfunction.
Created: 2 Dec 2022, 12:23 a.m. | Last Modified: 2 Dec 2022, 12:23 a.m.

Panel Version: 0.16

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Fanconi-Bickel syndrome, MIM #227810

Publications

PMID: 30950137, 22145468

Created: 2 Dec 2022, 12:23 a.m.
Last Modified: 2 Dec 2022, 12:23 a.m.
Panel version: 0.16

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
KidGen_Tubulopathies v38.1.0

Phenotypes

Fanconi-Bickel syndrome, MIM# 227810

OMIM

138160

Clinvar variants

Variants in SLC2A2

Penetrance

None

Publications

Panels with this gene

History Filter Activity

1 Dec 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SLC2A2 was added gene: SLC2A2 was added to Renal Tubulopathies and related disorders. Sources: KidGen_Tubulopathies v38.1.0,Expert Review Green Mode of inheritance for gene: SLC2A2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC2A2 were set to 22145468; 30950137 Phenotypes for gene: SLC2A2 were set to Fanconi-Bickel syndrome, MIM# 227810

Renal Tubulopathies and related disorders Gene: SLC2A2