Renal tubulopathies
Gene: CLCN5
Comment on list classification: After consultation with the Genomics England rare disease clinical team leaving this gene red on this panel as Dent disease is covered by the 'R256 Nephrocalcinosis or nephrolithiasis' panel.Created: 4 Sep 2019, 4:05 p.m. | Last Modified: 4 Sep 2019, 4:05 p.m.
Panel Version: 1.94
Associated with Dent disease (#300009), Hypophosphatemic rickets (#300554), Nephrolithiasis, type I (#310468) and Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis (#308990) in OMIM.
Many cases reported in OMIM.Created: 29 Aug 2019, 4:21 p.m. | Last Modified: 29 Aug 2019, 4:21 p.m.
Panel Version: 1.82
This gene was part of an initial gene list collated by Emma Ashton (NE Thames Regional Genetics laboratory, GOSH NHS Foundation Trust) January 2019 on behalf of the GMS Renal Specialist Test Group; Gene Symbol submitted: CLCN5; Suggested initial gene rating: green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided; Other Comments: Carrier females generally asymptomaticCreated: 3 Feb 2019, 11:32 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, MIM 300009. Hypophosphatemic rickets, MIM 300554. Nephrolithiasis, type I, MIM 310468. Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, MIM 308990
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance for gene: CLCN5 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Gene: clcn5 has been classified as Red List (Low Evidence).
Phenotypes for gene: CLCN5 were changed from Dent disease, MIM 300009. Hypophosphatemic rickets, 300554. Nephrolithiasis, type I, 310468. Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, 308990 to Dent disease, 300009. Hypophosphatemic rickets, 300554. Nephrolithiasis, type I, 310468. Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, 308990
Phenotypes for gene: CLCN5 were changed from to Dent disease, MIM 300009. Hypophosphatemic rickets, 300554. Nephrolithiasis, type I, 310468. Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, 308990
gene: CLCN5 was added gene: CLCN5 was added to Renal tubulopathies. Sources: NHS GMS Mode of inheritance for gene: CLCN5 was set to