Groopman et al 2019 - Genes with diagnostic variants

Gene: CLCN5

Green List (high evidence)

CLCN5 (chloride voltage-gated channel 5)
EnsemblGeneIds (GRCh38): ENSG00000171365
EnsemblGeneIds (GRCh37): ENSG00000171365
OMIM: 300008, Gene2Phenotype
CLCN5 is in 11 panels

1 review

Eleanor Williams (Genomics England Curator)

I don't know

From Groopman et al 2019 Table S7. Gene symbol: CLCN5; Inheritance: X-linked; Clinical diagnosis: Nephropathy of unknown origin; Glomerulopathy; Tubulointerstitial disease; Genetic diagnois: Dent disease; OMIM phenotype MIM no.:300009; Number of cases: 4
Created: 2 Jul 2019, 9:46 p.m. | Last Modified: 2 Jul 2019, 9:46 p.m.
Panel Version: 0.4

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 Review Green
  • Expert review green
  • Literature
Phenotypes
  • Tubulointerstitial disease
  • Dent disease
  • Nephropathy of unknown origin
  • Glomerulopathy
  • MIM 300009
OMIM
300008
Clinvar variants
Variants in CLCN5
Penetrance
None
Panels with this gene

History Filter Activity

2 Jul 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source Expert Review Green was added to CLCN5. Rating Changed from Red List (low evidence) to Green List (high evidence)

2 Jul 2019, Gel status: 1

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

Eleanor Williams (Genomics England Curator)

gene: CLCN5 was added gene: CLCN5 was added to Groopman et al 2019 - Genes with diagnostic variants. Sources: Literature,Expert review green 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 Tubulointerstitial disease; Dent disease; Nephropathy of unknown origin; Glomerulopathy; MIM 300009