Lysosomal Storage Disorder
Gene: CLCN6EnsemblGeneIds (GRCh38): ENSG00000011021
EnsemblGeneIds (GRCh37): ENSG00000011021
OMIM: 602726, Gene2Phenotype
CLCN6 is in 4 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Three unrelated families reported with recurrent GOF de novo c.1658A>G (p.Tyr553Cys) and severe developmental delay with pronounced generalized hypotonia, respiratory insufficiency, and variable neurodegeneration and diffusion restriction in cerebral peduncles, midbrain, and/or brainstem in MRI scans.Created: 7 Dec 2020, 7:32 a.m. | Last Modified: 7 Dec 2020, 7:32 a.m.
Panel Version: 0.54
Monoallelic variants reported in 3 families with BPEI, but functional data/segregation not compelling. Mouse knockout model has features of NCL.Created: 16 Mar 2020, 10:31 p.m. | Last Modified: 16 Mar 2020, 10:31 p.m.
Panel Version: 0.1
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Neurodegeneration; Benign partial epilepsy; febrile seizures; NCL
Publications
Mode of pathogenicity
Other
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Benign partial epilepsy
- febrile seizures
- NCL
- OMIM
- 602726
- Clinvar variants
- Variants in CLCN6
- Penetrance
- None
- Publications
- Mode of Pathogenicity
- Other
- Panels with this gene
History Filter Activity
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: CLCN6 were set to 25794116; 21107136; 33217309
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: CLCN6 were set to 25794116; 21107136
Set mode of pathogenicity
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of pathogenicity for gene: CLCN6 was changed from to Other
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: CLCN6 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: clcn6 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: clcn6 has been classified as Red List (Low Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: CLCN6 were changed from to Benign partial epilepsy; febrile seizures; NCL
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: CLCN6 were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: CLCN6 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: clcn6 has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: CLCN6 was added gene: CLCN6 was added to Storage Disorder_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CLCN6 was set to Unknown