Monogenic nephrogenic diabetes insipidus
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, 2:22 p.m. | Last Modified: 10 Aug 2023, 2:22 p.m.
Panel Version: 1.11
Phenotypes
associated with Barter syndrome and secondary inherited NDI only
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
Tag monogenic-polygenic tag was added to gene: SLC12A1.
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
Publications for gene: SLC12A1 were set to 28095294; 32506365
Publications for gene: SLC12A1 were set to 28095294
Phenotypes for SLC12A1 were set to hyperparathyroidism, hypercalcemia, nephrogenic diabetes insipidus, and nephrocalcinosis;associated with Barter syndrome and secondary inherited NDI only
Ready for use in tiering
This gene has been classified as Red List (Low Evidence).
SLC12A1 was created by ellenmcdonagh
SLC12A1 was added to monogenic nephrogenic diabetes insipiduspanel. Sources: Literature