Cystic kidney disease

Gene: CLCN5

No list

CLCN5 (chloride voltage-gated channel 5)
EnsemblGeneIds (GRCh38): ENSG00000171365
EnsemblGeneIds (GRCh37): ENSG00000171365
OMIM: 300008, Gene2Phenotype
CLCN5 is in 13 panels

1 review

John Sayer (Newcastle University)

Green List (high evidence)

Oliver Wrong noted kidney cysts in 33% of his cohort and I think Dent disease is such a difficult diagnosis to make, adding it to the cystic panel will identify new cases presenting with mild cystic kidney disease
Sources: Literature
Created: 27 Mar 2024, 8:50 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
cystic kdiney disease; cortical cysts; medullary cysts; nephrocalcinosis; low molecular weight proteinuria; hypercalciuria

Publications

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
Phenotypes
  • cystic kdiney disease
  • cortical cysts
  • medullary cysts
  • nephrocalcinosis
  • low molecular weight proteinuria
  • hypercalciuria
OMIM
300008
Clinvar variants
Variants in CLCN5
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

27 Mar 2024, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance

John Sayer (Newcastle University)

gene: CLCN5 was added gene: CLCN5 was added to Cystic kidney disease. Sources: Literature Mode of inheritance for gene: CLCN5 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: CLCN5 were set to 7922301; 37641036 Phenotypes for gene: CLCN5 were set to cystic kdiney disease; cortical cysts; medullary cysts; nephrocalcinosis; low molecular weight proteinuria; hypercalciuria Penetrance for gene: CLCN5 were set to Complete Review for gene: CLCN5 was set to GREEN