Renal Tubulopathies and related disorders
Gene: SLC5A2

SLC5A2 (solute carrier family 5 member 2)
EnsemblGeneIds (GRCh38): ENSG00000140675
EnsemblGeneIds (GRCh37): ENSG00000140675
OMIM: 182381, Gene2Phenotype
SLC5A2 is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Sources: Expert list
Created: 23 Jan 2020, 8:36 a.m.

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
Renal glucosuria, MIM# 233100

Variants in this GENE are reported as part of current diagnostic practice

Created: 23 Jan 2020, 8:36 a.m.

Panel version: Imported from Renal Tubulopathies_KidGen panel version 0.25

Details

Mode of Inheritance

BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Sources

Expert Review Green
Expert list
Expert Review Green
Expert list

Phenotypes

Renal glucosuria, MIM# 233100

OMIM

182381

Clinvar variants

Variants in SLC5A2

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: SLC5A2 was added gene: SLC5A2 was added to Renal Tubulopathies and related disorders. Sources: Expert list,Expert Review Green Mode of inheritance for gene: SLC5A2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: SLC5A2 were set to 21165652; 12436245; 26376857 Phenotypes for gene: SLC5A2 were set to Renal glucosuria, MIM# 233100

Renal Tubulopathies and related disorders Gene: SLC5A2