Nephrocalcinosis or nephrolithiasis
Gene: SLC22A12
Can be associated with urate stones.Created: 30 Oct 2019, 11:59 a.m. | Last Modified: 30 Oct 2019, 11:59 a.m.
Panel Version: 1.23
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Comment on list classification: Promoting from red to green. Sufficient number of cases with biallelic or compound heterozygous variants in this gene and a relevant phenotype reported. A few heterozygous cases also reported but the evidence is not so strong (asymptomatic family members with the same variant, only the SLC22A12 gene looked at).Created: 30 Oct 2019, 2:50 p.m. | Last Modified: 30 Oct 2019, 2:50 p.m.
Panel Version: 1.31
Comment on mode of inheritance: The evidence for biallelic inheritance is stronger so setting to this for now. AR in OMIM.Created: 30 Oct 2019, 2:34 p.m. | Last Modified: 30 Oct 2019, 3:17 p.m.
Panel Version: 1.35
Associated with Hypouricemia, renal #220150 (AR) in OMIM with Uric acid nephrolithiasis listed as a clinical feature.
PMID: 29486147 - Claverie-Martin et al 2018 - report patients from 6 unrelated Spanish families with Renal hypouricemia and variants in SLC22A12. Nephrolithiasis was reported in one Roma patient with compound heterozygous variants in this gene (L415_G417del, T467M).
PMID: 29958533 - Vidanapathirana et al 2018 - report a 9 year old Sri Lankan boy with renal hypouricemia who presented with nephrolithiasis and haematuria. He was found to have a potentially deleterious missense variant c.1400C > T (p.T467 M, rs200104135) in heterozygous state. This variant has been previously identified in homozygous and/or compound heterozygous state with other causative SLC22A12 variant c.1245_1253del (p.L415_G417del) in Roma population. The genotype c.[1400C > T] was found in the proband, his sister and father (both asymptomatic).
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. Urolithiasis occurred in 5 of the patients with variants in SLC22A12. 4 were homozygous or compound heterozygous, one was heterozygous. One variant G774A/W258X was the most common variant and is thought to be a founder mutation.
PMID: 15912381 - Cheong et al 2005 - studied the SLC22A12 gene in five Korean patients with idiopathic renal hypouricemia, 1 patient with a R90H substitution had uric acid urolithiasis. The variant was heterozygous.Created: 20 Oct 2019, 3:08 p.m. | Last Modified: 30 Oct 2019, 2:42 p.m.
Panel Version: 1.29
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications
Gene: slc22a12 has been classified as Green List (High Evidence).
Phenotypes for gene: SLC22A12 were changed from to Hypouricemia, renal, 220150
Publications for gene: SLC22A12 were set to
Mode of inheritance for gene: SLC22A12 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
SLC22A12 was added to Renal tract calcification (or Nephrolithiasis/nephrocalcinosis)panel. Sources: Expert