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  2. Kidneyome_SuperPanel_VCGS
  3. CLCN5
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Kidneyome_SuperPanel_VCGS

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

0 reviews

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
  • Expert list
  • Expert Review Green
Phenotypes
  • Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, MIM#308990
  • Dent disease, MIM#300009
OMIM
300008
Clinvar variants
Variants in CLCN5
Penetrance
None
Panels with this gene

History Filter Activity

28 Jan 2020, Gel status: 3

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

Eleanor Williams (Genomics England Curator)

gene: CLCN5 was added gene: CLCN5 was added to Kidneyome_SuperPanel_VCGS. Sources: Expert Review Green,Expert list 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) Phenotypes for gene: CLCN5 were set to Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, MIM#308990; Dent disease, MIM#300009