Hypophosphataemia or rickets

Gene: CLCN5

I don't know

Variants in this gene cause Dent disease - Oudet et al 1997 (PMID: 9187673) - family with four brothers presenting low molecular weight proteinuria, dramatic hypercalciuria and hypophosphataemic rickets. Morimoto et al 1998 (PMID: 9596078) - all patients had low molecular weight proteinuria (LMWP). LMWP is the pathognomonic finding of Dent disease, therfore possible that these patients will be tested using the Proteinuric renal disease panel. 60% patients with Dent disease have variant in this gene (NB. 15% of Dent patients have variants in the OCRL gene and this gene should be considered for addition to the Proteinuric renal disease panel).

Created: 29 Jan 2019, 11:39 a.m. | Last Modified: 11 May 2020, 11:56 a.m.

Panel Version: 2.4

Publications

• 9596078
• 9187673

Comment when marking as ready: As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is insufficient evidence to rate this gene as green. So will remain as amber.

Created: 29 Jan 2019, 11:46 a.m.

Comment on list classification: Promoted from red to amber based on the previous comment. CLCN5 is confirmed to be associated with hypophosphataemic rickets on OMIM, but no phenotypes are listed for it on Gene2Phenotype. It is also a green gene on the Skeletal dysplasia panel (Version 1.129).

Created: 4 Dec 2018, 11:04 a.m.

PMID: 22695891 - Turkish family, proband is homozygous for nonsense variant in CLCN5.
PMID: 9187673 - a family with four members diagnosed Hypophosphataemic rickets have a missense variant in CLCN5.

Created: 28 Nov 2018, 4:23 p.m.

Publications

• 28383812
• 9187673