Renal Tubulopathies and related disorders

Gene: CLCN5

Green List (high evidence)

CLCN5 (chloride voltage-gated channel 5)
EnsemblGeneIds (GRCh38): ENSG00000171365
EnsemblGeneIds (GRCh37): ENSG00000171365
OMIM: 300008, Gene2Phenotype
CLCN5 is in 11 panels

4 reviews

Chirag Patel (Genetic Health Queensland)

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

Krithika Murali (Victorian Clinical Genetics Services)

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

Melanie Marty (Victorian Clinical Genetics Services)

Green List (high evidence)

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

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Expert list
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Dent disease, MIM#300009
  • Nephrolithiasis, type I, MIM#310468
  • Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, MIM#308990
  • Hypophosphatemic rickets, MIM#300554
OMIM
300008
Clinvar variants
Variants in CLCN5
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: 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