Renal tubulopathies
Gene: CLCNKBComment 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), the current GMS rare disease bioinformatic pipeline does not allow for interpretation of digenic events.Created: 10 Aug 2023, 9:42 a.m. | Last Modified: 10 Aug 2023, 9:42 a.m.
Panel Version: 4.5
Comment on phenotypes: Hypokalaemic alkalosis with hypomagnesaemia & hypocalciuriaCreated: 7 Apr 2022, 3:27 p.m. | Last Modified: 7 Apr 2022, 3:27 p.m.
Panel Version: 2.42
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: CLCNKB; 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 3, MIM 607394
Variants in this GENE are reported as part of current diagnostic practice
Comment on mode of inheritance: Monoallelic only in the context of possible digenic inheritance, so should only be biallelic in our current system.Created: 16 May 2016, 2:31 p.m.
Comment when marking as ready: Known expert and in Eligibility statement prior genetic testingCreated: 10 May 2016, 11:04 a.m.
Sometimes single allele identified. Can also be one allele of two where the second is in CLCNKA and the patient has Type 4B Bartters.
This is NOT RTACreated: 28 Oct 2015, 9:47 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
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance for gene: CLCNKB was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Tag monogenic-polygenic tag was added to gene: CLCNKB.
Phenotypes for gene: CLCNKB were changed from Bartter syndrome, type 3, OMIM:607364; Bartter syndrome, type 4b, digenic, OMIM:613090 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
Publications for gene: CLCNKB were set to 9326936; 18310267; 32506365; 32488762; 30999883
Publications for gene: CLCNKB were set to 9326936; 18310267
Phenotypes for gene: CLCNKB were changed from Bartter syndrome, type 3, OMIM:607364; Bartter syndrome, type 4b, digenic, OMIM:613090 to Bartter syndrome, type 3, OMIM:607364; Bartter syndrome, type 4b, digenic, OMIM:613090
Publications for gene: CLCNKB were set to 9326936; 18310267
Phenotypes for gene: CLCNKB were changed from Hypokalaemic alkalosis with hypomagnesaemia & hypocalciuria; Bartter syndrome, type 3, 607394 to Bartter syndrome, type 3, OMIM:607364; Bartter syndrome, type 4b, digenic, OMIM:613090
Publications for gene: CLCNKB were set to 9326936
Phenotypes for gene: CLCNKB were changed from Hypokalaemic alkalosis with hypomagnesaemia & hypocalciuria to Hypokalaemic alkalosis with hypomagnesaemia & hypocalciuria; Bartter syndrome, type 3, 607394
Source NHS GMS was added to CLCNKB. Rating Changed from Green List (high evidence) to Green List (high evidence)
Mode of inheritance for CLCNKB was changed to BIALLELIC, autosomal or pseudoautosomal
Publications for CLCNKB were set to 9326936
Mode of inheritance for CLCNKB was changed to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
CLCNKB was added to Renal tubular acidosispanel. Sources: Eligibility statement prior genetic testing