Calcium and Phosphate disorders

Gene: CLCN5

Green List (high evidence)

Well established association
Sources: Expert list

Created: 28 Nov 2022, 9:06 p.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
Hypophosphatemic rickets, MIM# 300554; Hypophosphatemic rickets, MIM# 300554

Publications

• PMID: 8559248, 9596078

Green List (high evidence)

Part of the disease spectrum of Dent disease 1/CLCN5-related disease (Definitive association, ClinGen Tubulopathy GCEP). Low-molecular weight proteinuria is an important feature.

Created: 20 Oct 2022, 10:47 p.m. | Last Modified: 20 Oct 2022, 10:47 p.m.

Panel Version: 0.36

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
Hypophosphatemic rickets, MIM# 300554

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

I don't know

CLCN5 is classically associated with Dent disease; two families reported with a hypophospataemic rickets phenotype, in addition to proteinuria. Unclear if this is a distinct phenotype or one end of the spectrum of CLCN5-related disease.

Created: 8 Aug 2020, 4:37 a.m. | Last Modified: 8 Aug 2020, 4:37 a.m.

Panel Version: 0.10

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Hypophosphatemic rickets, MIM# 300554

Publications

• 8559248
• 9596078