CLCNKB

chloride voltage-gated channel Kb
OMIM: 602023, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Red CLCNKB in Hydrops fetalis


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.313

review Other
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Bartter syndrome, type 4b, digenic, MIM#613090

Green CLCNKB in Mendeliome


Version 1.1902

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Bartter syndrome, type 3, MIM# 607364
  • Bartter syndrome, type 4b, digenic, MIM# 613090
Tags
  • SV/CNV

Green CLCNKB in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 0.6063

review Other
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Bartter syndrome, type 3, MIM#607364
  • Bartter syndrome, type 4b, digenic, MIM#613090

Green CLCNKB in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 0.109

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Bartter syndrome, type 4b, digenic, 613090 (3)

Green CLCNKB in Fetal anomalies


Version 1.255

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Genetic Health Queensland
Phenotypes
  • Bartter syndrome, type 3, MIM#607364
  • Bartter syndrome, type 4b, digenic, MIM#613090

Green CLCNKB in Prepair 1000+


Level 2: Screening
Version 1.9

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Bartter syndrome, type 4b, digenic, 613090 (3)

Green CLCNKB in Renal Tubulopathies and related disorders


Level 2: Renal and urinary tract disorders
Version 1.14

Component of the following Super Panels:

  • Kidneyome_SuperPanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Expert Review
    • Literature
    • Victorian Clinical Genetics Services
    Phenotypes
    • Bartter syndrome, type 3, MIM# 607364
    • Bartter syndrome, type 4b, digenic, MIM# 613090