Renal tubulopathies
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, 2:26 p.m. | Last Modified: 10 Aug 2023, 2:26 p.m.
Panel Version: 4.13
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: SLC12A1; 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 providedCreated: 3 Feb 2019, 11:32 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Bartter syndrome, type 1, MIM 601678
Variants in this GENE are reported as part of current diagnostic practice
Comment when marking as ready: Known expert and in Eligibility statement prior genetic testingCreated: 10 May 2016, 11:07 a.m.
NOT RTACreated: 28 Oct 2015, 9:51 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.
Publications
Variants in this GENE are reported as part of current diagnostic practice
Publications for gene: SLC12A1 were set to 8640224; 30999883; 32506365; 26770037; 27103762; 8640224; 9355073; 28095294; 32506365
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; 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 8640224; 30999883; 32506365; 26770037; 27103762
Publications for gene: SLC12A1 were set to 8640224; 32506365
Publications for gene: SLC12A1 were set to 8640224
Phenotypes for gene: SLC12A1 were changed from Type 1 Bartter syndrome: infantile onset, pregnancy noted for polyhydramnios. Hyperprostagladinuria. Hypokalaemia and metabolic alkalosis +/- nephrocalcinosis. to Type 1 Bartter syndrome: infantile onset, pregnancy noted for polyhydramnios. Hyperprostagladinuria. Hypokalaemia and metabolic alkalosis +/- nephrocalcinosis; Bartter syndrome, type 1, 601678
Source NHS GMS was added to SLC12A1. Rating Changed from Green List (high evidence) to Green List (high evidence)
Phenotypes for SLC12A1 were set to Type 1 Bartter syndrome: infantile onset, pregnancy noted for polyhydramnios. Hyperprostagladinuria. Hypokalaemia and metabolic alkalosis +/- nephrocalcinosis.
Publications for SLC12A1 were set to 8640224
Mode of inheritance for SLC12A1 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
This gene has been classified as Red List (Low Evidence).
SLC12A1 was added to Renal tubular acidosispanel. Sources: Eligibility statement prior genetic testing