Renal Tubulopathies and related disorders
Gene: CLCN5
Well established association
Sources: Expert listCreated: 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
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
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
Mainly affects males, but female carriers may show milder phenotype. The phenotype is variable within and between families (PMID: 28580211).Created: 3 Feb 2020, 5:23 a.m. | Last Modified: 3 Feb 2020, 5:23 a.m.
Panel Version: 0.1
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Dent disease 300009; Hypophosphatemic rickets 300554; Nephrolithiasis, type I 310468; Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis 308990
Publications
gene: CLCN5 was added gene: CLCN5 was added to Renal Tubulopathies and related disorders. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: CLCN5 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: CLCN5 were set to 28580211; 8559248, 9596078 Phenotypes for gene: CLCN5 were set to Dent disease, MIM#300009; Nephrolithiasis, type I, MIM#310468; Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, MIM#308990; Hypophosphatemic rickets, MIM#300554