PanelApp (stage)
  1. Genes and Genomic Entities
  2. CLDN19

CLDN19

claudin 19
OMIM: 610036, Gene2Phenotype

9 panels

Panel Reviews Mode of inheritance Details
9 panels

Green CLDN19 in Anophthalmia_Microphthalmia_Coloboma


Level 2: Ophthalmological disorders
Version 1.39

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

Green CLDN19 in Mendeliome


Version 1.1891

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

Green CLDN19 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
  • Hypomagnesemia 5, renal, with ocular involvement, 248190 (3)

Green CLDN19 in Additional findings_Paediatric


Level 2: Screening
Version 0.278

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Hypomagnesemia 5, renal, with ocular involvement

Green CLDN19 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 5 with ocular involvement MONDO:0009548

    Green CLDN19 in Amelogenesis imperfecta


    Level 2: Skeletal disorders
    Version 1.10

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

    Green CLDN19 in Prepair 1000+


    Level 2: Screening
    Version 1.9

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Hypomagnesemia 5, renal, with ocular involvement, 248190 (3)

    Red CLDN19 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.113

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

    Green CLDN19 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
    • Hypomagnesaemia 5, renal, with ocular involvement, MIM#248190