Nephrocalcinosis or nephrolithiasis
Gene: SLC12A1EnsemblGeneIds (GRCh38): ENSG00000074803
EnsemblGeneIds (GRCh37): ENSG00000074803
OMIM: 600839, Gene2Phenotype
SLC12A1 is in 4 panels
3 reviews
Sarah Leigh (Genomics England Curator)
Heterozygous 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
Ellen McDonagh (Genomics England Curator)
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.
Fiona Karet (Universit y of Cambridge)
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.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Bartter syndrome, type 1, OMIM:601678
- Bartter disease type 1, MONDO:0100344
- Tags
- OMIM
- 600839
- Clinvar variants
- Variants in SLC12A1
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Added Tag
Sarah Leigh (Genomics England Curator)Tag monogenic-polygenic tag was added to gene: SLC12A1.
Set Phenotypes
Sarah Leigh (Genomics England Curator)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
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: SLC12A1 were set to PMID: 21631963; 21189980; 20219833; 19513753; 19096086; 18830715; 17998760; 16807401
Set Phenotypes
Ellen McDonagh (Genomics England Curator)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;
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Ellen McDonagh (Genomics England Curator)Publications for SLC12A1 were set to PMID: 21631963; 21189980; 20219833; 19513753; 19096086; 18830715; 17998760; 16807401
Added New Source
Eik Haraldsdottir (Genomics England)SLC12A1 was added to Renal tract calcification (or Nephrolithiasis/nephrocalcinosis)panel. Sources: Expert
Added New Source
GEL ()SLC12A1 was added to Renal tract calcification (or Nephrolithiasis/nephrocalcinosis)panel. Sources: Radboud University Medical Center, Nijmegen
Added New Source
GEL ()SLC12A1 was added to Renal tract calcification (or Nephrolithiasis/nephrocalcinosis)panel. Sources: Illumina TruGenome Clinical Sequencing Services