Nephrocalcinosis or nephrolithiasis
Gene: SLC12A1Heterozygous digenic SLC12A1 and CLCNKB variants have been associated with a variant of Bartter syndrome (PMID: 32506365), however, the current GMS rare disease bioinformatic pipeline does not allow for interpretation of digenic events.Created: 10 Aug 2023, 2:25 p.m. | Last Modified: 10 Aug 2023, 2:25 p.m.
Panel Version: 4.9
Comment on list classification: Originally an amber gene, promoted due to expert review and evidence from a literature search and in OMIM.Created: 9 May 2016, 1:31 p.m.
See 'dRTA' categoryCreated: 29 Oct 2015, 10:25 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Type 1 Bartter syndrome: infantile onset, pregnancy noted for polyhydramnios. Hyperprostagladinuria. Hypokalaemia and metabolic alkalosis +/- nephrocalcinosis.
Tag monogenic-polygenic tag was added to gene: SLC12A1.
Phenotypes for gene: SLC12A1 were changed from Type 1 Bartter syndrome: infantile onset, pregnancy noted for polyhydramnios; Hyperprostagladinuria; Hypokalaemia and metabolic alkalosis +/- nephrocalcinosis; Antenatal Bartter Syndrome; Bartter syndrome, type 1, 601678 to Bartter syndrome, type 1, OMIM:601678; Bartter disease type 1, MONDO:0100344
Publications for gene: SLC12A1 were set to PMID: 21631963; 21189980; 20219833; 19513753; 19096086; 18830715; 17998760; 16807401
Phenotypes for SLC12A1 were set to Type 1 Bartter syndrome: infantile onset, pregnancy noted for polyhydramnios; Hyperprostagladinuria; Hypokalaemia and metabolic alkalosis +/- nephrocalcinosis; Antenatal Bartter Syndrome; Bartter syndrome, type 1, 601678;
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Publications for SLC12A1 were set to PMID: 21631963; 21189980; 20219833; 19513753; 19096086; 18830715; 17998760; 16807401
SLC12A1 was added to Renal tract calcification (or Nephrolithiasis/nephrocalcinosis)panel. Sources: Expert
SLC12A1 was added to Renal tract calcification (or Nephrolithiasis/nephrocalcinosis)panel. Sources: Radboud University Medical Center, Nijmegen
SLC12A1 was added to Renal tract calcification (or Nephrolithiasis/nephrocalcinosis)panel. Sources: Illumina TruGenome Clinical Sequencing Services