Renal Tubulopathies and related disorders
Gene: SLC22A12

SLC22A12 (solute carrier family 22 member 12)
EnsemblGeneIds (GRCh38): ENSG00000197891
EnsemblGeneIds (GRCh37): ENSG00000197891
OMIM: 607096, Gene2Phenotype
SLC22A12 is in 3 panels

1 review

Manny Jacobs (Victorian Clinical Genetics Services)

Green List (high evidence)

More than three unrelated families reported with renal hypouracaemia in the literature.
PMID 26821810 report that having 1 or 2 SLC22A12 variants reduce serum uric acid levels.
Created: 9 May 2022, 1:30 a.m. | Last Modified: 9 May 2022, 1:30 a.m.

Panel Version: 0.62

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hypouricemia, renal, MIM# 220150, MONDO:0020728

Publications

Created: 9 May 2022, 1:30 a.m.
Last Modified: 9 May 2022, 1:30 a.m.
Panel version: Imported from Nephrolithiasis and Nephrocalcinosis panel version 0.62

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Hypouricemia, renal, MIM# 220150, MONDO:0020728

OMIM

607096

Clinvar variants

Variants in SLC22A12

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: SLC22A12 was added gene: SLC22A12 was added to Renal Tubulopathies and related disorders. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: SLC22A12 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC22A12 were set to 34756726; 34412930; 26821810; 34829836; 14655203 Phenotypes for gene: SLC22A12 were set to Hypouricemia, renal, MIM# 220150, MONDO:0020728

Renal Tubulopathies and related disorders Gene: SLC22A12