Cystic kidney disease
Gene: CLCN5EnsemblGeneIds (GRCh38): ENSG00000171365
EnsemblGeneIds (GRCh37): ENSG00000171365
OMIM: 300008, Gene2Phenotype
CLCN5 is in 10 panels
3 reviews
Achchuthan Shanmugasundram (Genomics England Curator)
The rating of this gene has been updated to green and the mode of inheritance set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) following NHS Genomic Medicine Service approval.Created: 26 Sep 2024, 10:49 a.m. | Last Modified: 26 Sep 2024, 10:49 a.m.
Panel Version: 6.3
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sarah Leigh (Genomics England Curator)
Numerous CLCN5 variants have been associated with Dent's disease complex (OMIM: 300009)(PMID: 8559248; 9259268; 9187673; 9602200; 14569459; 16041495; 16247550; 19673950).Created: 25 Jun 2024, 3:39 p.m. | Last Modified: 25 Jun 2024, 3:39 p.m.
Panel Version: 5.5
Publications
John Sayer (Newcastle University)
Oliver Wrong noted kidney cysts in 33% of his cohort and I think Dent disease is such a difficult diagnosis to make, adding it to the cystic panel will identify new cases presenting with mild cystic kidney disease
Sources: LiteratureCreated: 27 Mar 2024, 8:50 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
cystic kdiney disease; cortical cysts; medullary cysts; nephrocalcinosis; low molecular weight proteinuria; hypercalciuria
Publications
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
- NHS GMS
- Phenotypes
-
- Dent disease 1, OMIM:300009
- Hypophosphatemic rickets, OMIM:300554
- Nephrolithiasis, type I, OMIM:310468
- Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, OMIM:308990
- OMIM
- 300008
- Clinvar variants
- Variants in CLCN5
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Removed Tag, Removed Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q2_24_promote_green was removed from gene: CLCN5. Tag Q2_24_NHS_review was removed from gene: CLCN5.
Added New Source, Added New Source, Status Update
Achchuthan Shanmugasundram (Genomics England Curator)Source NHS GMS was added to CLCN5. Source Expert Review Green was added to CLCN5. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Added Tag, Added Tag
Sarah Leigh (Genomics England Curator)Tag Q2_24_promote_green tag was added to gene: CLCN5. Tag Q2_24_NHS_review tag was added to gene: CLCN5.
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: CLCN5 were set to 7922301; 37641036
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: CLCN5 were changed from cystic kdiney disease; cortical cysts; medullary cysts; nephrocalcinosis; low molecular weight proteinuria; hypercalciuria to Dent disease 1, OMIM:300009; Hypophosphatemic rickets, OMIM:300554; Nephrolithiasis, type I, OMIM:310468; Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, OMIM:308990
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: clcn5 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
John Sayer (Newcastle University)gene: CLCN5 was added gene: CLCN5 was added to Cystic kidney disease. Sources: Literature 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) Publications for gene: CLCN5 were set to 7922301; 37641036 Phenotypes for gene: CLCN5 were set to cystic kdiney disease; cortical cysts; medullary cysts; nephrocalcinosis; low molecular weight proteinuria; hypercalciuria Penetrance for gene: CLCN5 were set to Complete Review for gene: CLCN5 was set to GREEN