Renal Tubulopathies and related disorders
Gene: CLDN16

CLDN16 (claudin 16)
EnsemblGeneIds (GRCh38): ENSG00000113946
EnsemblGeneIds (GRCh37): ENSG00000113946
OMIM: 603959, Gene2Phenotype
CLDN16 is in 4 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

Primarily a renal disorder, however note 5 individuals reported with AI phenotype. Mouse model supports specific role in enamel formation.
Created: 26 Apr 2022, 5:13 a.m. | Last Modified: 26 Apr 2022, 5:13 a.m.

Panel Version: 0.13323

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hypomagnesemia 3, renal MIM#248250; amelogenesis imperfecta MONDO#0019507, CLDN16-related

Publications

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

Created: 26 Apr 2022, 5:13 a.m.
Last Modified: 26 Apr 2022, 5:13 a.m.
Panel version: Imported from Hypomagnesaemia panel version Imported from Mendeliome panel version 0.13323

Details

Mode of Inheritance

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

OMIM

603959

Clinvar variants

Variants in CLDN16

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: CLDN16 was added gene: CLDN16 was added to Renal Tubulopathies and related disorders. Sources: KidGen_Magnesium v38.1.0,Expert Review Green Mode of inheritance for gene: CLDN16 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CLDN16 were set to 16501001; 32869508; 10878661; 26426912 Phenotypes for gene: CLDN16 were set to amelogenesis imperfecta MONDO#0019507, CLDN16-related; Hypomagnesemia 3, renal MIM#248250

Renal Tubulopathies and related disorders Gene: CLDN16