Renal Tubulopathies and related disorders
Gene: CLDN19

CLDN19 (claudin 19)
EnsemblGeneIds (GRCh38): ENSG00000164007
EnsemblGeneIds (GRCh37): ENSG00000164007
OMIM: 610036, Gene2Phenotype
CLDN19 is in 9 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

Established disease association
Created: 26 Apr 2022, 5:17 a.m. | Last Modified: 26 Apr 2022, 5:17 a.m.

Panel Version: 0.13324

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hypomagnesemia 5, renal, with ocular involvement, MIM#248190

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 26 Apr 2022, 5:17 a.m.
Last Modified: 26 Apr 2022, 5:17 a.m.
Panel version: Imported from Hypomagnesaemia panel version Imported from Mendeliome panel version 0.13326

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
KidGen_Magnesium v38.1.0

Phenotypes

Hypomagnesaemia 5, renal, with ocular involvement, MIM#248190

OMIM

610036

Clinvar variants

Variants in CLDN19

Penetrance

None

Publications

Panels with this gene

History Filter Activity

1 Dec 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CLDN19 was added gene: CLDN19 was added to Renal Tubulopathies and related disorders. Sources: KidGen_Magnesium v38.1.0,Expert Review Green Mode of inheritance for gene: CLDN19 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CLDN19 were set to 22422540; 27530400; 17033971 Phenotypes for gene: CLDN19 were set to Hypomagnesaemia 5, renal, with ocular involvement, MIM#248190

Renal Tubulopathies and related disorders Gene: CLDN19