CLCNKB

chloride voltage-gated channel Kb
OMIM: 602023, Gene2Phenotype

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Green CLCNKB in Nephrocalcinosis or nephrolithiasis Level 3: Disorders of function Level 2: Renal and urinary tract disorders Version 4.13 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Renal superpanel - broad Renal superpanel - narrow	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Expert Radboud University Medical Center, Nijmegen UKGTN Phenotypes 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 Tags monogenic-polygenic Q3_23_MOI
Red CLCNKB in Ductal plate malformation Version 1.29	review	BIALLELIC, autosomal or pseudoautosomal	Sources Radboud University Medical Center, Nijmegen Expert list Phenotypes 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 Tags monogenic-polygenic
Amber CLCNKB in Unexplained young onset end-stage renal disease Version 3.40 Latest signed off version: v3.0 (22 Mar 2023) Component of the following Super Panels: Renal superpanel - broad	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Amber Phenotypes Bartter syndrome, type 3, OMIM:607364 Bartter disease type 3, MONDO:0011822 Tags monogenic-polygenic Q4_23_promote_green
Amber CLCNKB in Fetal anomalies Version 3.152 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber PAGE DD-Gene2Phenotype Phenotypes 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 Tags monogenic-polygenic
Green CLCNKB in DDG2P Version 3.87 Latest signed off version: v3.1 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green DD-Gene2Phenotype Phenotypes BARTTER SYNDROME TYPE 4B 613090
Green CLCNKB in Renal tubulopathies Level 3: Disorders of function Level 2: Renal and urinary tract disorders Version 4.17 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Renal superpanel - broad Renal superpanel - narrow	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Eligibility statement prior genetic testing Phenotypes 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 Tags monogenic-polygenic
Red CLCNKB in Intellectual disability - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.523 Latest signed off version: v5.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes 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 Tags monogenic-polygenic