CLDN19

claudin 19
OMIM: 610036, ClinGen, DECIPHER

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green CLDN19 in Anophthalmia_Microphthalmia_Coloboma


Level 2: Ophthalmological disorders
Version 2.10

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Disease associations
  • Hypomagnesemia 5, renal, with ocular involvement, MIM#248190

Green CLDN19 in Mendeliome


Version 2.742

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • Hypomagnesaemia 5, renal, with ocular involvement, MIM#248190

Green CLDN19 in Metal Metabolism Disorders


Level 2: Metabolic disorders
Version 1.2

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • 0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Disease associations
    • Disorders of magnesium metabolism
    • renal hypomagnesemia 5 with ocular involvement MONDO:0009548

    Green CLDN19 in Amelogenesis imperfecta


    Level 2: Skeletal disorders
    Version 2.0

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Disease associations
    • Hypomagnesaemia 5, renal, with ocular involvement, MIM# 248190
    • Amelogenesis imperfecta

    Green CLDN19 in Prepair 1000+


    Level 2: Screening
    Version 3.2

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Disease associations
    • Hypomagnesaemia 5, renal, with ocular involvement, MIM#248190

    Red CLDN19 in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 2.13

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BabySeq Category A gene
    Disease associations
    • Deafness, autosomal recessive 116 MIM#619093

    Green CLDN19 in Renal Tubulopathies and related disorders


    Level 2: Renal and urinary tract disorders
    Version 2.10

    Component of the following Super Panels:

  • Kidneyome_SuperPanel
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • KidGen_Magnesium v38.1.0
    Disease associations
    • Hypomagnesaemia 5, renal, with ocular involvement, MIM#248190