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  2. Renal and urinary tract disorders
  3. CLCN5
STRs in panel
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Renal and urinary tract disorders

Gene: CLCN5

Green List (high evidence)
CLCN5 (chloride voltage-gated channel 5)
EnsemblGeneIds (GRCh38): ENSG00000171365
EnsemblGeneIds (GRCh37): ENSG00000171365
OMIM: 300008, Gene2Phenotype
CLCN5 is in 10 panels

1 review

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotypes in OMIM, not in G2P. Numerous variants reported
Created: 4 Aug 2016, 11:38 a.m.
Comment on list classification: Promoted from Red to Green because this gene is Green in Version 1 of the Proteinuric renal disease gene panel
Created: 17 Jun 2016, 9:12 a.m.
Comment on list classification: Promoted from Red to Green because this gene is Green on the Proteinuric renal disease gene panel
Created: 17 Jun 2016, 8:37 a.m.
Created: 17 Jun 2016, 8:37 a.m.

Panel version: Imported from End-stage renal disease - childhood onset panel version 0.11

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
Phenotypes
  • Nephrolithiasis, type I, 310468
  • Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, 308990
  • Dent disease, 300009
  • Hypophosphatemic rickets, 300554
OMIM
300008
Clinvar variants
Variants in CLCN5
Penetrance
None
Panels with this gene

History Filter Activity

30 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Sarah Leigh: Comment on list classification

20 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: CLCN5 was added gene: CLCN5 was added to Renal and urinary tract disorders. Sources: Expert Review Green Mode of inheritance for gene: CLCN5 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: CLCN5 were set to Nephrolithiasis, type I, 310468; Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, 308990; Dent disease, 300009; Hypophosphatemic rickets, 300554