CLCN5

chloride voltage-gated channel 5
OMIM: 300008, Gene2Phenotype

11 panels

Panel Reviews Mode of inheritance Details
11 panels
Amber CLCN5 in Hypophosphataemia or rickets


Version 3.4
Latest signed off version: v3.0 (30 Nov 2022)

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • Emory Genetics Laboratory
  • Expert list
Phenotypes
  • Hypophosphatemic rickets (300554)
Green CLCN5 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 X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Expert
    • UKGTN
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • Dent Disease
    • Dent disease, 300009
    • Nephrolithiasis, type I, 310468Hypophosphatemic rickets, 300554
    • Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, 308990
    • Nephrocalcinosis with low molecular weight proteinuria and pregressive CKD
    Green CLCN5 in Unexplained kidney failure in young people

    Level 3: Disorders of function
    Level 2: Renal and urinary tract disorders
    Version 1.117

    Component of the following Super Panels:

  • Renal superpanel - broad
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Illumina TruGenome Clinical Sequencing Services
    • UKGTN
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Dent disease, 300009
    • Nephrolithiasis, type I, 310468
    • Hypophosphatemic rickets, 300554
    • Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, 308990
    Green CLCN5 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 4.52
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • NHS GMS
    • Expert Review Green
    • Emory Genetics Laboratory
    Phenotypes
    • Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis 308990
    • Dent disease 300009
    • Nephrolithiasis, type I 310468
    • Hypophosphatemic rickets 300554
    Green CLCN5 in Unexplained young onset end-stage renal disease


    Version 3.38
    Latest signed off version: v3.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Renal superpanel - broad
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    Phenotypes
    • Nephrolithiasis, type I, 310468
    • Dent disease, 300009
    • Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, 308990
    • Hypophosphatemic rickets, 300554
    Red CLCN5 in Osteogenesis imperfecta

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 4.4
    Latest signed off version: v4.0 (22 Mar 2023)

    review Not set
    Sources
    • Expert Review Red
    • Emory Genetics Laboratory
    Phenotypes
    • Osteogenesis Imperfecta and Decreased Bone Density
    • skeletal dysplasias
    Red CLCN5 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 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Red
    • NHS GMS
    Phenotypes
    • Dent disease, 300009. Hypophosphatemic rickets, 300554. Nephrolithiasis, type I, 310468. Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, 308990
    Red CLCN5 in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.477
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    Phenotypes
    • Dent disease
    Green CLCN5 in Proteinuric renal disease

    Level 3: Syndromes with prominent renal abnormalities
    Level 2: Renal and urinary tract disorders
    Version 4.6
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Renal superpanel - broad
  • Renal superpanel - narrow
  • review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • NHS GMS
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Dent disease, 300009
    • Nephrolithiasis, type I, 310468
    • Hypophosphatemic rickets, 300554
    • Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, 308990
    Green CLCN5 in Groopman et al 2019 - Genes with diagnostic variants


    Version 0.8

    review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Green
    • Expert review green
    • Literature
    Phenotypes
    • Tubulointerstitial disease
    • Dent disease
    • Nephropathy of unknown origin
    • Glomerulopathy
    • MIM 300009
    Green CLCN5 in Severe Paediatric Disorders


    Version 1.182

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Nephrolithiasis, type I, 310468
    • Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, 308990
    • Hypophosphatemic rickets, 300554
    • Dent disease, 300009