Renal tubulopathiesGene: SLC22A12
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
Gene: slc22a12 has been classified as Green List (High Evidence).
Publications for gene: SLC22A12 were set to
Mode of inheritance for gene: SLC22A12 was changed from to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC22A12 were changed from to Hypouricemia, renal, 220150
gene: SLC22A12 was added gene: SLC22A12 was added to Renal tubulopathies. Sources: NHS GMS Mode of inheritance for gene: SLC22A12 was set to