Genomics England
GMS Panels
Panels
Genes and Entities

CLCN5

chloride voltage-gated channel 5
OMIM: 300008
PanelMode of inheritanceDetails
4 panels
Green
in Nephrocalcinosis or nephrolithiasis
R-numbers: R256
Signed-off version 4.0
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
Green
in Proteinuric renal disease
R-numbers: R195
Signed-off version 4.0
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
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 4.0
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
Green
in Unexplained young onset end-stage renal disease
R-numbers: R257
Signed-off version 3.0
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