Monogenic nephrogenic diabetes insipidus
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, 2:22 p.m. | Last Modified: 10 Aug 2023, 2:22 p.m.
Panel Version: 1.11
emma baple (Genomics England Curator)
Phenotypes
associated with Barter syndrome and secondary inherited NDI only
Ellen McDonagh (Genomics England Curator)
4 cases (one set of siblings) reported in PMID: 28095294, homozygous or compound heterozygous each associated with hypercalcemia, primary hyperparathyroidism, nephrogenic diabetes insipidus, and nephrocalcinosis.Created: 26 Apr 2017, 2:57 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
hyperparathyroidism, hypercalcemia, nephrogenic diabetes insipidus, and nephrocalcinosis
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Literature
- 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 hyperparathyroidism, hypercalcemia, nephrogenic diabetes insipidus, and nephrocalcinosis; associated with Barter syndrome and secondary inherited NDI only 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 28095294; 32506365
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: SLC12A1 were set to 28095294
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for SLC12A1 were set to hyperparathyroidism, hypercalcemia, nephrogenic diabetes insipidus, and nephrocalcinosis;associated with Barter syndrome and secondary inherited NDI only
panel promoted to version 1
emma baple (Genomics England Curator)Ready for use in tiering
Gene classified by Genomics England curator
emma baple (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Created
Ellen McDonagh (Genomics England Curator)SLC12A1 was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)SLC12A1 was added to monogenic nephrogenic diabetes insipiduspanel. Sources: Literature