Nephrocalcinosis or nephrolithiasis

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, 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

Green List (high evidence)

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.