CLDN16

claudin 16
OMIM: 603959, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green CLDN16 in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hypomagnesemia 3, renal MIM#248250
  • amelogenesis imperfecta MONDO#0019507, CLDN16-related

Green CLDN16 in Metal Metabolism Disorders


Level 2: Metabolic disorders
Version 0.45

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Disorders of magnesium metabolism
    • renal hypomagnesemia 3 MONDO:0009550

    Green CLDN16 in Amelogenesis imperfecta


    Level 2: Skeletal disorders
    Version 1.10

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Hypomagnesaemia 3, renal, MIM# 248250
    • Amelogenesis imperfecta

    Green CLDN16 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
    • KidGen_Magnesium v38.1.0
    Phenotypes
    • amelogenesis imperfecta MONDO#0019507, CLDN16-related
    • Hypomagnesemia 3, renal MIM#248250