CLDN16

claudin 16
OMIM: 603959, Gene2Phenotype

9 panels

Panel Reviews Mode of inheritance Details
9 panels

Green CLDN16 in Nephrocalcinosis or nephrolithiasis

Level 3: Disorders of function
Level 2: Renal and urinary tract disorders
Version 2.3
Signed off v.2.2 on 13 Feb 2020

Component of the following Super Panels:

  • Renal superpanel - broad
  • Renal superpanel - narrow
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert
    Phenotypes
    • Hypomagnesemia 3, renal

    Red CLDN16 in Ductal plate malformation


    Version 1.10

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    • Expert list
    Phenotypes
    • Hypomagnesemia 3, renal (248250)

    Green CLDN16 in Undiagnosed metabolic disorders

    Level 3: Specific metabolic abnormalities
    Level 2: Metabolic disorders
    Version 1.413

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Hypomagnesemia 3, renal 248250

    Green CLDN16 in Inborn errors of metabolism


    Version 2.4
    Signed off v.2.3 on 17 Feb 2020

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • London North GLH
    • NHS GMS
    Phenotypes
    • Hypomagnesemia 3, renal 248250

    Amber CLDN16 in Amelogenesis imperfecta

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 2.4
    Signed off v.2.2 on 13 Feb 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Amelogenesis imperfecta in familial hypomagnesaemia and hypercalciuria with nephrocalcinosis (FHHNC)

    Green CLDN16 in Renal tubulopathies

    Level 3: Disorders of function
    Level 2: Renal and urinary tract disorders
    Version 2.3
    Signed off v.2.2 on 19 Feb 2020

    Component of the following Super Panels:

  • Renal superpanel - broad
  • Renal superpanel - narrow
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Hypomagnesemia 3, renal 248250

    Red CLDN16 in Childhood onset dystonia or chorea or related movement disorder


    Version 1.3
    Signed off v.1.2 on 25 Feb 2020

    review Not set
    Sources
    • Expert Review Red
    • London North GLH

    Green CLDN16 in Nephrolithiasis and Nephrocalcinosis_KidGen_VCGS


    Level 2: Renal and urinary tract disorders
    Version 0.3

    review Unknown
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services

    Green CLDN16 in Kidneyome_SuperPanel_VCGS


    Level 2: Renal and urinary tract disorders
    Version 0.2

    review Unknown
    Sources
    • KidGen_Magnesium v38.1.0
    • Expert Review Green