Nephrocalcinosis or nephrolithiasis
Gene: CLCNKB
Comment on mode of inheritance: The mode of inheritance for CLCNKB should be BIALLELIC, autosomal or pseudoautosomal. Although digenic CLCNKB & CLCNKA variants are associated with Bartter syndrome, type 4b, digenic (OMIM:613090), this phenotype is not relevant to this panel and the current GMS rare disease bioinformatic pipeline does not allow for interpretation of digenic events.Created: 10 Aug 2023, 9:34 a.m. | Last Modified: 10 Aug 2023, 9:34 a.m.
Panel Version: 4.3
Nephrocalcinosis would appear to be a variable feature in Bartter syndrome, type 3, OMIM:607364 (PMID:120550;9326936;15717167) and would not appear to be part of the Bartter syndrome, type 4b, digenic (OMIM: 613090) phenotype.Created: 10 Aug 2023, 9:15 a.m. | Last Modified: 10 Aug 2023, 9:15 a.m.
Panel Version: 4.2
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Bartter syndrome, type 3, OMIM:607364; Bartter disease type 3, MONDO:0011822
Publications
Comment on mode of inheritance: In OMIM Autosomal recessive for Bartter syndrome, type 3 607364 and Digenic recessive for Bartter syndrome, type 4b, digenic 613090.Created: 6 Nov 2019, 5:11 p.m. | Last Modified: 6 Nov 2019, 5:11 p.m.
Panel Version: 1.47
Comment on list classification: Originally an amber gene, promoted to green after a green expert review and evidence on OMIM.Created: 20 May 2016, 8:41 a.m.
Comment on mode of inheritance: Mode of inheritance sourced from reviewer.Created: 20 May 2016, 8:39 a.m.
Comment on mode of inheritance: Mode of inheritance sourced from reviewer.Created: 9 May 2016, 10:45 a.m.
See 'dRTA' categoryCreated: 29 Oct 2015, 9:12 p.m.
Rarely, single allele identified.Created: 29 Oct 2015, 9:11 p.m.
Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Type 3 Bartter syndrome
Mode of inheritance for gene: CLCNKB was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Tag monogenic-polygenic tag was added to gene: CLCNKB. Tag Q3_23_MOI tag was added to gene: CLCNKB.
Phenotypes for gene: CLCNKB were changed from Bartter syndrome, type 3, 607364; Type 3 Bartter syndrome; Bartter syndrome, type 4b, digenic, 613090; BARTTER SYNDROME TYPE 4B to Bartter syndrome, type 3, OMIM:607364; Bartter disease type 3, MONDO:0011822; Bartter syndrome, type 4b, digenic, OMIM:613090; Bartter disease type 4B, MONDO:0000909
Mode of inheritance for gene: CLCNKB was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for CLCNKB were set to 28018459; 23550235
Publications for CLCNKB were set to 28018459; 23550235
Publications for CLCNKB were set to 28018459
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Publications for CLCNKB were set to
Mode of inheritance for CLCNKB was changed to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes for CLCNKB were set to Bartter syndrome, type 3, 607364; Type 3 Bartter syndrome; Bartter syndrome, type 4b, digenic, 613090; BARTTER SYNDROME TYPE 4B
Mode of inheritance for CLCNKB was changed to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
CLCNKB was added to Renal tract calcification (or Nephrolithiasis/nephrocalcinosis)panel. Sources: Expert
CLCNKB was added to Renal tract calcification (or Nephrolithiasis/nephrocalcinosis)panel. Sources: Radboud University Medical Center, Nijmegen
CLCNKB was added to Renal tract calcification (or Nephrolithiasis/nephrocalcinosis)panel. Sources: UKGTN