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Skeletal dysplasia

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

4 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

300554 listed in Abnormal mineralization gp of SD. XLR. Same variant reported in 2 families with differing severity of phenotype (S244L) - OMIM. A further case reported by Guven et al 2017 has a truncating variant. Other disorders not listed in SD nosology paper, although Dent's disease also has rickets and short stature? S244L has also been reported in association with Dent's without rickets (eg Hoopes et al 1998, Tang et al 2016). Functional studies suggest S244L. abolishes anion conductance sequence (Tang et al 2016). Green/amber for 300554?; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:44 a.m.

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

Phenotypes
Dent disease 300009; Hypophosphatemic rickets 300554; Nephrolithiasis, type I 310468; Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis 308990

Eleanor Williams (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: CLCN5; Initial rating suggestion: green
Created: 6 Mar 2019, 11:36 a.m.

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Numerous variants reported in these phenotypes.
Created: 13 Jul 2016, 8:07 a.m.
Comment on phenotypes: Variants also reported in: Nephrolithiasis, type I 310468; Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis 308990
Created: 13 Jul 2016, 8:07 a.m.
Comment on list classification: Used diagnostically by Ana Beleza (Guy's and St Thomas' NHS Foundation Trust)
Created: 21 Jun 2016, 12:34 p.m.

Ana Beleza (Bristol Regional Genetics Service)

Green List (high evidence)

Tier 1
Created: 17 Jun 2016, 8:02 a.m.

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

Phenotypes
Dent disease 300009; Hypophosphatemic rickets 300554; Nephrolithiasis, type I 310468; Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis 308990

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

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • NHS GMS
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis 308990
  • Dent disease 300009
  • Nephrolithiasis, type I 310468
  • Hypophosphatemic rickets 300554
OMIM
300008
Clinvar variants
Variants in CLCN5
Penetrance
Complete
Panels with this gene

History Filter Activity

6 May 2019, Gel status: 4

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis 308990; Dent disease 300009; Nephrolithiasis, type I 310468; Hypophosphatemic rickets 300554 for gene: CLCN5

6 Mar 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to CLCN5. Rating Changed from Green List (high evidence) to Green List (high evidence)

9 Aug 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to version 1 9th August 2016

13 Jul 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

13 Jul 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for CLCN5 were set to Dent disease 300009; Hypophosphatemic rickets 300554; Nephrolithiasis, type I 310468; Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis 308990

7 Jul 2016, Gel status: 4

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

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

21 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

18 May 2016, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

CLCN5 was added to Unexplained skeletal dysplasiapanel. Source: Emory Genetics Laboratory CLCN5 was added to Unexplained skeletal dysplasiapanel. Source: Expert Review Red

18 May 2016, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

CLCN5 was added to Unexplained skeletal dysplasiapanel. Sources:

18 May 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

CLCN5 was created by sleigh