CLCN5

chloride voltage-gated channel 5
OMIM: 300008
PanelMode of inheritanceDetails
4 panels
R-numbers: R256
Signed-off version 2.2
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
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
R-numbers: R195
Signed-off version 2.32
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Dent disease, 300009, Nephrolithiasis, type I, 310468, Hypophosphatemic rickets, 300554, Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, 308990
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 2.2
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis 308990, Dent disease 300009, Nephrolithiasis, type I 310468, Hypophosphatemic rickets 300554
R-numbers: R257
Signed-off version 1.2
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Nephrolithiasis, type I, 310468, Dent disease, 300009, Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, 308990, Hypophosphatemic rickets, 300554