Renal tubulopathies

Gene: SLC22A12

Green List (high evidence)

SLC22A12 (solute carrier family 22 member 12)
EnsemblGeneIds (GRCh38): ENSG00000197891
EnsemblGeneIds (GRCh37): ENSG00000197891
OMIM: 607096, Gene2Phenotype
SLC22A12 is in 5 panels

1 review

Eleanor Williams (Genomics England Curator)

Green List (high evidence)

Comment on list classification: Changing rating from red to green as > 3 cases reported.
Created: 5 Sep 2019, 9:45 p.m. | Last Modified: 5 Sep 2019, 9:45 p.m.
Panel Version: 1.160
Associated with Hypouricemia, renal #220150 in OMIM.

PMID: 18492088 - Ichida et al 2008 - identified SLC22A12 mutations in 66 of 71 Japanese patients with hypouricemia. A total of 13 mutations, including 3 novel mutations, were identified. Acute renal failure and urolithiasis occurred in 21.1% and 8.5% of patients, respectively.
Created: 2 Sep 2019, 10:18 p.m. | Last Modified: 2 Sep 2019, 10:18 p.m.
Panel Version: 1.82
This gene was part of an initial gene list collated by Emma Ashton (NE Thames Regional Genetics laboratory, GOSH NHS Foundation Trust) January 2019 on behalf of the GMS Renal Specialist Test Group; Gene Symbol submitted: SLC22A12; Suggested initial gene rating: green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided
Created: 3 Feb 2019, 11:32 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Hypouricemia, renal, MIM 220150

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


Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
  • Expert Review Green
  • Hypouricemia, renal, 220150
Clinvar variants
Variants in SLC22A12
Panels with this gene

History Filter Activity

5 Sep 2019, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: slc22a12 has been classified as Green List (High Evidence).

5 Sep 2019, Gel status: 1

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: SLC22A12 were set to

5 Sep 2019, Gel status: 1

Set mode of inheritance

Eleanor Williams (Genomics England Curator)

Mode of inheritance for gene: SLC22A12 was changed from to BIALLELIC, autosomal or pseudoautosomal

17 Jun 2019, Gel status: 1

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: SLC22A12 were changed from to Hypouricemia, renal, 220150

3 Feb 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Eleanor Williams (Genomics England Curator)

gene: SLC22A12 was added gene: SLC22A12 was added to Renal tubulopathies. Sources: NHS GMS Mode of inheritance for gene: SLC22A12 was set to