Unexplained young onset end-stage renal disease
Gene: CLCN5
Comment on mode of inheritance: PMID: 25907713 reports that female carriers can have mild symptoms of Dent disease so Xlinked (monoalllelic in females) may be more appropriate. However, this gene is associated with 4 renal diseases in OMIM (Dent disease, Hypophosphatemic rickets, Nephrolithiasis, type I, Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis) which are all reported as XLR so keeping as Xlinked (biallelic in females) just now.Created: 21 Oct 2019, 5:43 a.m. | Last Modified: 23 Oct 2019, 12:31 p.m.
Panel Version: 0.45
Gene imported from the 'Renal and urinary tract disorders' panel v1.8 with a rating of GreenCreated: 9 Apr 2019, 11:17 a.m.
Comment when marking as ready: Associated with phenotypes in OMIM, not in G2P. Numerous variants reportedCreated: 4 Aug 2016, 11:38 a.m.
Comment on list classification: Promoted from Red to Green because this gene is Green in Version 1 of the Proteinuric renal disease gene panelCreated: 17 Jun 2016, 9:12 a.m.
Comment on list classification: Promoted from Red to Green because this gene is Green on the Proteinuric renal disease gene panelCreated: 17 Jun 2016, 8:37 a.m.
Mode of inheritance for gene: CLCN5 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females
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)
gene: CLCN5 was added gene: CLCN5 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green Mode of inheritance for gene: CLCN5 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: CLCN5 were set to Nephrolithiasis, type I, 310468; Dent disease, 300009; Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, 308990; Hypophosphatemic rickets, 300554