Nephrocalcinosis or nephrolithiasis

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

3 reviews

Eleanor Williams (Genomics England Curator)

Comment on Mode of Inheritance - PMID: 25907713 reports that female carriers can have mild symptoms of Dent disease so Xlinked (monoalllelic in females) may be more appropriate. However, in OMIM the mode of inheritance for Dents disease, Hypophosphatemic rickets, Nephrolithiasis, type I and Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis is XLR so keeping as Xlinked (biallelic in females) just now.
Created: 30 Oct 2019, 12:56 p.m. | Last Modified: 30 Oct 2019, 3:13 p.m.
Panel Version: 1.35

Fiona Karet (Universit y of Cambridge)

Green List (high evidence)

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Nephrocalcinosis with low molecular weight proteinuria and pregressive CKD

Variants in this GENE are reported as part of current diagnostic practice

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: Confirmed on OMIM.
Created: 9 May 2016, 10:37 a.m.
Comment on list classification: From 3 original sources, and have a green review with current diagnostic indicated.
Created: 9 May 2016, 10:36 a.m.
Mode of inheritance submitted by expert was "XLR", mapping to X-linked recessive = X-LINKED: hemizygous mutation in males, biallelic mutation in females.
Created: 8 Jul 2015, 12:40 p.m.

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Expert
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
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
OMIM
300008
Clinvar variants
Variants in CLCN5
Penetrance
Complete
Panels with this gene

History Filter Activity

9 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

9 May 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for CLCN5 was changed to X-LINKED: hemizygous mutation in males, biallelic mutations in females

9 May 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for CLCN5 were set to 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

9 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

9 May 2016, Gel status: 3

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for CLCN5 were set to

8 May 2015, Gel status: 3

Added New Source

Eik Haraldsdottir (Genomics England)

CLCN5 was added to Renal tract calcification (or Nephrolithiasis/nephrocalcinosis)panel. Sources: Expert

28 Apr 2015, Gel status: 3

Added New Source

GEL ()

CLCN5 was added to Renal tract calcification (or Nephrolithiasis/nephrocalcinosis)panel. Sources: UKGTN

28 Apr 2015, Gel status: 2

Added New Source

GEL ()

CLCN5 was added to Renal tract calcification (or Nephrolithiasis/nephrocalcinosis)panel. Sources: Radboud University Medical Center, Nijmegen

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

CLCN5 was added to Renal tract calcification (or Nephrolithiasis/nephrocalcinosis)panel. Sources: Illumina TruGenome Clinical Sequencing Services