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Nephrocalcinosis or nephrolithiasis v4.19 CLCNKB Achchuthan Shanmugasundram Tag Q3_23_MOI was removed from gene: CLCNKB.
Nephrocalcinosis or nephrolithiasis v4.19 CLCNKB Achchuthan Shanmugasundram reviewed gene: CLCNKB: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Nephrocalcinosis or nephrolithiasis v4.18 CLCNKB Achchuthan Shanmugasundram Source NHS GMS was added to CLCNKB.
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 BIALLELIC, autosomal or pseudoautosomal
Nephrocalcinosis or nephrolithiasis v4.6 CLCNKA Sarah Leigh changed review comment from: Comment on mode of inheritance: Digenic CLCNKA & CLCNKB variants are associated with Bartter syndrome, type 4b, digenic (OMIM:613090)(PMID: 15044642;18310267). The current GMS rare disease bioinformatic pipeline does not allow for interpretation of digenic events.; to: 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.
Nephrocalcinosis or nephrolithiasis v4.5 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). The current GMS rare disease bioinformatic pipeline does not allow for interpretation of digenic events.
Nephrocalcinosis or nephrolithiasis v4.3 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), this phenotype is not relevant to this panel and the current GMS rare disease bioinformatic pipeline does not allow for interpretation of digenic events.
Nephrocalcinosis or nephrolithiasis v4.3 CLCNKB Sarah Leigh 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
Nephrocalcinosis or nephrolithiasis v4.2 CLCNKB Sarah Leigh Tag monogenic-polygenic tag was added to gene: CLCNKB.
Tag Q3_23_MOI tag was added to gene: CLCNKB.
Nephrocalcinosis or nephrolithiasis v4.2 CLCNKB Sarah Leigh reviewed gene: CLCNKB: Rating: GREEN; Mode of pathogenicity: None; Publications: 120550, 9326936, 15717167; Phenotypes: Bartter syndrome, type 3, OMIM:607364, Bartter disease type 3, MONDO:0011822; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Nephrocalcinosis or nephrolithiasis v4.2 CLCNKB Sarah Leigh 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
Nephrocalcinosis or nephrolithiasis v1.47 CLCNKB Eleanor Williams Added comment: 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.
Nephrocalcinosis or nephrolithiasis v1.47 CLCNKB Eleanor Williams 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