Nephrocalcinosis or nephrolithiasis
Gene: CLCNKAComment on mode of inheritance: Digenic CLCNKA & CLCNKB variants are associated with Bartter syndrome, type 4b, digenic (OMIM:613090)(PMID: 15044642;18310267;32488762). The current GMS rare disease bioinformatic pipeline does not allow for interpretation of digenic events.Created: 10 Aug 2023, 12:08 p.m. | Last Modified: 10 Aug 2023, 12:20 p.m.
Panel Version: 4.6
Not associated with any disease.Created: 30 Oct 2019, 11:59 a.m. | Last Modified: 30 Oct 2019, 11:59 a.m.
Panel Version: 1.23
Associated with Bartter syndrome, type 4b, digenic #613090 (DR) in OMIM.Created: 10 Oct 2019, 4:11 p.m. | Last Modified: 10 Oct 2019, 4:11 p.m.
Panel Version: 1.18
Comment on list classification: Is a possible DD gene for Bartter syndrome Type 4B.Created: 20 May 2016, 9:16 a.m.
Phenotypes for gene: CLCNKA were changed from Bartter syndrome, type 4b, digenic, 613090 to Bartter syndrome, type 4b, digenic, OMIM:613090; Bartter disease type 4B, MONDO:0000909
Publications for gene: CLCNKA were set to 15044642; 18310267
Mode of inheritance for gene: CLCNKA was changed from BIALLELIC, autosomal or pseudoautosomal to Other
Publications for gene: CLCNKA were set to
Tag polygenic tag was added to gene: CLCNKA.
This gene has been classified as Red List (Low Evidence).
Mode of inheritance for CLCNKA was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Red List (Low Evidence).
CLCNKA was added to Renal tract calcification (or Nephrolithiasis/nephrocalcinosis)panel. Sources: Radboud University Medical Center, Nijmegen