Proteinuric renal disease
Gene: CLCN5
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 diseaseCreated: 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
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.
To be included in future diagnostic panel in UK labCreated: 19 Oct 2015, 1:22 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Dent disease
Publications
Mode of inheritance for gene: CLCN5 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females 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
Source NHS GMS was added to CLCN5. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
Mode of inheritance for CLCN5 was changed to X-LINKED: hemizygous mutation in males, biallelic mutations in females
This gene has been classified as Green List (High Evidence).
CLCN5 was added to Proteinuric renal diseasepanel. Source: Radboud University Medical Center, Nijmegen
CLCN5 was added to Proteinuric renal diseasepanel. Source: Radboud University Medical Center, Nijmegen
CLCN5 was added to Proteinuric renal diseasepanel. Sources: Radboud University Medical Center, Nijmegen