Proteinuric renal disease

Gene: CLCN5

Green List (high evidence)

Changed Mode of inheritance to X linked: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) because PMID: 25907713 reports that female carriers can have mild symptoms of Dent disease

Created: 2 Dec 2019, 10:26 p.m. | Last Modified: 2 Dec 2019, 10:26 p.m.

Panel Version: 1.226

Note on Mode of inheritance - OMIM list the mode of inheritance for both Dent disease #300009; Proteinuria low molecular weight #308990 as XLR so have left mode of inheritance as X-LINKED: hemizygous mutation in males, biallelic mutations in females. However, PMID: 25907713 reports that female carriers can have mild symptoms of Dent disease so Xlinked (monoalllelic in females) may be more appropriate.

Created: 9 Oct 2019, 11:10 a.m. | Last Modified: 21 Oct 2019, 5:40 a.m.

Panel Version: 1.225

This gene was part of an initial gene list collated by Elizabeth Watson, North Bristol NHS Trust, February 2019 on behalf of the GMS Renal Specialist Test Group. Gene Symbol submitted: CLCN5; Suggested initial gene rating: green; Evidence for inclusion: PMID27757584; PMID: 25907713; Other comments: Female phenotype ranges from asymptomatic to ESRD (PMID 25907713). Pathogenic variants reported in two unrelated male patients.

Created: 4 Feb 2019, 10:41 a.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
Dent disease #300009; Proteinuria low molecular weight #308990

Publications

• PMID27757584
• PMID: 25907713

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

Comment on list classification: Different mutations robustly associated with proteinuria in Japanese patients.

Created: 16 May 2016, 8:20 p.m.

I don't know

To be included in future diagnostic panel in UK lab

Created: 19 Oct 2015, 1:22 p.m.

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

Phenotypes
Dent disease

Publications

• http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3817907/