Unexplained kidney failure in young people
Gene: CLCN5EnsemblGeneIds (GRCh38): ENSG00000171365
EnsemblGeneIds (GRCh37): ENSG00000171365
OMIM: 300008, Gene2Phenotype
CLCN5 is in 10 panels
1 review
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotypes in OMIM, not in G2P. Numerous variants reportedCreated: 4 Aug 2016, 11:38 a.m.
Comment on list classification: Promoted from Red to Green because this gene is Green in Version 1 of the Proteinuric renal disease gene panelCreated: 17 Jun 2016, 9:12 a.m.
Comment on list classification: Promoted from Red to Green because this gene is Green on the Proteinuric renal disease gene panelCreated: 17 Jun 2016, 8:37 a.m.
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Green
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Dent disease, 300009
- Nephrolithiasis, type I, 310468
- Hypophosphatemic rickets, 300554
- Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, 308990
- OMIM
- 300008
- Clinvar variants
- Variants in CLCN5
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to version 1 17th August 2016
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Upload gene information
Sarah Leigh (Genomics England Curator)CLCN5 was added to Unexplained kidney failure in young peoplepanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
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
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Created
Sarah Leigh (Genomics England Curator)CLCN5 was created by sleigh
Added New Source
Sarah Leigh (Genomics England Curator)CLCN5 was added to Unexplained kidney failure in young peoplepanel. Sources: Radboud University Medical Center, Nijmegen