Nephrocalcinosis or nephrolithiasis
Gene: CLCN5Comment 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, in OMIM the mode of inheritance for Dents disease, Hypophosphatemic rickets, Nephrolithiasis, type I and Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis is XLR so keeping as Xlinked (biallelic in females) just now.Created: 30 Oct 2019, 12:56 p.m. | Last Modified: 30 Oct 2019, 3:13 p.m.
Panel Version: 1.35
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Nephrocalcinosis with low molecular weight proteinuria and pregressive CKD
Variants in this GENE are reported as part of current diagnostic practice
Comment on mode of inheritance: Confirmed on OMIM.Created: 9 May 2016, 10:37 a.m.
Comment on list classification: From 3 original sources, and have a green review with current diagnostic indicated.Created: 9 May 2016, 10:36 a.m.
Mode of inheritance submitted by expert was "XLR", mapping to X-linked recessive = X-LINKED: hemizygous mutation in males, biallelic mutation in females.Created: 8 Jul 2015, 12:40 p.m.
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
Phenotypes for CLCN5 were set to Dent Disease; Dent disease, 300009; Nephrolithiasis, type I, 310468Hypophosphatemic rickets, 300554; Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, 308990; Nephrocalcinosis with low molecular weight proteinuria and pregressive CKD
This gene has been classified as Green List (High Evidence).
Publications for CLCN5 were set to
CLCN5 was added to Renal tract calcification (or Nephrolithiasis/nephrocalcinosis)panel. Sources: Expert
CLCN5 was added to Renal tract calcification (or Nephrolithiasis/nephrocalcinosis)panel. Sources: UKGTN
CLCN5 was added to Renal tract calcification (or Nephrolithiasis/nephrocalcinosis)panel. Sources: Radboud University Medical Center, Nijmegen
CLCN5 was added to Renal tract calcification (or Nephrolithiasis/nephrocalcinosis)panel. Sources: Illumina TruGenome Clinical Sequencing Services