CLDN19

claudin 19
OMIM: 610036, ClinGen, DECIPHER

9 panels

Panel Reviews Mode of inheritance Details
9 panels

Green CLDN19 in Anophthalmia_Microphthalmia_Coloboma


Level 2: Ophthalmological disorders
Version 2.0

1 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 2.0

1 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 1.0

0 reviews 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 1.0

0 reviews 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 1.0

0 reviews 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 2.1

1 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 3.0

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

Red CLDN19 in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 2.0

1 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 2.0

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