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Renal tubulopathies v4.7 CLCNKA Sarah Leigh Added comment: Comment 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.
Renal tubulopathies v4.5 CLCNKB Sarah Leigh Added comment: 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), the current GMS rare disease bioinformatic pipeline does not allow for interpretation of digenic events.
Renal tubulopathies v4.5 CLCNKB Sarah Leigh Mode of inheritance for gene: CLCNKB was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Renal tubulopathies v4.4 CLCNKB Sarah Leigh Tag monogenic-polygenic tag was added to gene: CLCNKB.
Renal tubulopathies v4.4 CLCNKB Sarah Leigh 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
Renal tubulopathies v4.3 CLCNKB Sarah Leigh Deleted their comment
Renal tubulopathies v2.48 CLCNKB Sarah Leigh Publications for gene: CLCNKB were set to 9326936; 18310267; 32506365; 32488762; 30999883
Renal tubulopathies v2.45 CLCNKB Sarah Leigh Publications for gene: CLCNKB were set to 9326936; 18310267
Renal tubulopathies v2.44 CLCNKB Sarah Leigh Added comment: Comment on phenotypes: Hypokalaemic alkalosis with hypomagnesaemia & hypocalciuria
Renal tubulopathies v2.44 CLCNKB Sarah Leigh 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
Renal tubulopathies v2.43 CLCNKB Sarah Leigh Publications for gene: CLCNKB were set to 9326936; 18310267
Renal tubulopathies v2.42 CLCNKB Sarah Leigh Added comment: Comment on phenotypes: Hypokalaemic alkalosis with hypomagnesaemia & hypocalciuria
Renal tubulopathies v2.42 CLCNKB Sarah Leigh 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
Renal tubulopathies v2.41 CLCNKB Sarah Leigh Publications for gene: CLCNKB were set to 9326936
Renal tubulopathies v1.96 CLCNKA Eleanor Williams Added comment: Comment on mode of inheritance: Digenic recessive with CLCNKB variants.
Renal tubulopathies v1.82 CLCNKA Eleanor Williams commented on gene: CLCNKA: Associated with Bartter syndrome, type 4b, digenic (#613090) in OMIM.

PMID: 15044642 - Schlingmann et al 2004 - in a child with a child with renal salt wasting and deafness, they identified both a homozygous deletion of the CLCNKB gene and a homozygous trp80-to-cys mutation in the CLCNKA gene (W80C).

Nozu et al 2008 - 2-year-old Japanese girl with a severe form of Bartter syndrome with sensorineural deafness. Parents were nonconsanguineous. They found 2 heterozygous mutations in the CLCNKA and CLCNKB genes on the paternal allele, and a 12-kb deletion involving portions of the CLCNKA and CLCNKB genes on the maternal allele. Neither parent was clinically affected.
Renal tubulopathies v1.34 CLCNKB Eleanor Williams Phenotypes for gene: CLCNKB were changed from Hypokalaemic alkalosis with hypomagnesaemia & hypocalciuria to Hypokalaemic alkalosis with hypomagnesaemia & hypocalciuria; Bartter syndrome, type 3, 607394
Renal tubulopathies v1.16 CLCNKB Eleanor Williams reviewed gene: CLCNKB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Bartter syndrome, type 3, MIM 607394; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Renal tubulopathies v1.15 CLCNKB Eleanor Williams Source NHS GMS was added to CLCNKB.
Rating Changed from Green List (high evidence) to Green List (high evidence)