Likely inborn error of metabolism
Gene: CLCN6EnsemblGeneIds (GRCh38): ENSG00000011021
EnsemblGeneIds (GRCh37): ENSG00000011021
OMIM: 602726, Gene2Phenotype
CLCN6 is in 5 panels
1 review
Sarah Leigh (Genomics England Curator)
PMID 33217309 reports gain of function associated with CLCN6 variants.Created: 8 Jan 2024, 2:55 p.m. | Last Modified: 8 Jan 2024, 2:55 p.m.
Panel Version: 4.108
Although this gene is rated as Green on the Neuronal ceroid lipofuscinosis panel, it is not considered to be a metabolic gene and so is rated Red on this panel.Created: 8 Jan 2024, 2:47 p.m. | Last Modified: 8 Jan 2024, 2:47 p.m.
Panel Version: 4.108
Sources: OtherCreated: 8 Jan 2024, 2:45 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Neurodegeneration, childhood-onset, hypotonia, respiratory insufficiency and brain imaging abnormalities OMIM:619173
Publications
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Red
- Other
- Phenotypes
-
- Neurodegeneration, childhood-onset, hypotonia, respiratory insufficiency and brain imaging abnormalities OMIM:619173
- OMIM
- 602726
- Clinvar variants
- Variants in CLCN6
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set mode of pathogenicity
Achchuthan Shanmugasundram (Genomics England Curator)Mode of pathogenicity for gene: CLCN6 was changed from None to None
Set mode of pathogenicity
Achchuthan Shanmugasundram (Genomics England Curator)Mode of pathogenicity for gene: CLCN6 was changed from None to None
Set mode of pathogenicity
Achchuthan Shanmugasundram (Genomics England Curator)Mode of pathogenicity for gene: CLCN6 was changed from None to None
Set mode of pathogenicity
Achchuthan Shanmugasundram (Genomics England Curator)Mode of pathogenicity for gene: CLCN6 was changed from None to None
Set mode of pathogenicity
Achchuthan Shanmugasundram (Genomics England Curator)Mode of pathogenicity for gene: CLCN6 was changed from Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments to None
Entity classified by Genomics England curator
Achchuthan Shanmugasundram (Genomics England Curator)Gene: clcn6 has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Achchuthan Shanmugasundram (Genomics England Curator)Gene: clcn6 has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Achchuthan Shanmugasundram (Genomics England Curator)Gene: clcn6 has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Achchuthan Shanmugasundram (Genomics England Curator)Gene: clcn6 has been classified as Red List (Low Evidence).
Removed Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q2_24_promote_green was removed from gene: CLCN6.
Entity classified by Genomics England curator
Achchuthan Shanmugasundram (Genomics England Curator)Gene: clcn6 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Achchuthan Shanmugasundram (Genomics England Curator)Gene: clcn6 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Achchuthan Shanmugasundram (Genomics England Curator)Gene: clcn6 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Achchuthan Shanmugasundram (Genomics England Curator)Gene: clcn6 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Achchuthan Shanmugasundram (Genomics England Curator)Gene: clcn6 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Achchuthan Shanmugasundram (Genomics England Curator)Gene: clcn6 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Achchuthan Shanmugasundram (Genomics England Curator)Gene: clcn6 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Achchuthan Shanmugasundram (Genomics England Curator)Gene: clcn6 has been classified as Amber List (Moderate Evidence).
Added Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q2_24_promote_green tag was added to gene: CLCN6.
Set mode of pathogenicity
Achchuthan Shanmugasundram (Genomics England Curator)Mode of pathogenicity for gene: CLCN6 was changed from Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Set mode of pathogenicity
Achchuthan Shanmugasundram (Genomics England Curator)Mode of pathogenicity for gene: CLCN6 was changed from None to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Sarah Leigh (Genomics England Curator)gene: CLCN6 was added gene: CLCN6 was added to Likely inborn error of metabolism - targeted testing not possible. Sources: Other Mode of inheritance for gene: CLCN6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CLCN6 were set to 29667327; 26658788; 25794116; 21107136; 33217309; 16950870 Phenotypes for gene: CLCN6 were set to Neurodegeneration, childhood-onset, hypotonia, respiratory insufficiency and brain imaging abnormalities OMIM:619173 Review for gene: CLCN6 was set to RED