Renal Tubulopathies and related disorders
Gene: CLDN10

CLDN10 (claudin 10)
EnsemblGeneIds (GRCh38): ENSG00000134873
EnsemblGeneIds (GRCh37): ENSG00000134873
OMIM: 617579, Gene2Phenotype
CLDN10 is in 6 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Low urinary Mg and hyperMg described in this condition.
Created: 30 Jan 2020, 3:38 a.m. | Last Modified: 30 Jan 2020, 3:38 a.m.

Panel Version: 0.15

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
HELIX syndrome, MIM#617671

Created: 30 Jan 2020, 3:38 a.m.
Last Modified: 30 Jan 2020, 3:38 a.m.
Panel version: Imported from Renal Abnormalities of Magnesium Metabolism panel version 0.15

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
KidGen_Magnesium v38.1.0
Expert Review Green
KidGen_Magnesium v38.1.0

Phenotypes

HELIX syndrome, MIM#617671

OMIM

617579

Clinvar variants

Variants in CLDN10

Penetrance

None

Publications

28686597

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: CLDN10 was added gene: CLDN10 was added to Renal Tubulopathies and related disorders. Sources: KidGen_Magnesium v38.1.0,Expert Review Green Mode of inheritance for gene: CLDN10 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CLDN10 were set to 28686597 Phenotypes for gene: CLDN10 were set to HELIX syndrome, MIM#617671

Renal Tubulopathies and related disorders Gene: CLDN10