Kidneyome_SuperPanel_KidGen_VCGS
Gene: CLCN5EnsemblGeneIds (GRCh38): ENSG00000171365
EnsemblGeneIds (GRCh37): ENSG00000171365
OMIM: 300008, Gene2Phenotype
CLCN5 is in 10 panels
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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 list
- KidGen_Tubulopathies v38.1.0
- Victorian Clinical Genetics Services
- Expert Review Green
- Phenotypes
-
- Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, MIM#308990
- Dent disease, MIM#300009
- OMIM
- 300008
- Clinvar variants
- Variants in CLCN5
- Penetrance
- None
- Panels with this gene
History Filter Activity
Set Phenotypes
Ivone Leong (Genomics England Curator)Added phenotypes Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, MIM#308990; Dent disease, MIM#300009 for gene: CLCN5
Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)Source Expert list was added to CLCN5. Mode of inheritance for gene CLCN5 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Added phenotypes Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, MIM#308990; Dent disease, MIM#300009 for gene: CLCN5
Added New Source
Ivone Leong (Genomics England Curator)Source KidGen_Tubulopathies v38.1.0 was added to CLCN5.
Created, Added New Source, Set mode of inheritance
Ivone Leong (Genomics England Curator)gene: CLCN5 was added gene: CLCN5 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CLCN5 was set to Unknown