Regression
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.
Sources: LiteratureCreated: 7 Dec 2020, 7:39 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Neurodegeneration with brain iron accumulation 5, MIM# 300894
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Neurodegeneration with brain iron accumulation 5, MIM# 300894
- OMIM
- 602726
- Clinvar variants
- Variants in CLCN6
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
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 Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: CLCN6 was added gene: CLCN6 was added to Regression. Sources: Literature Mode of inheritance for gene: CLCN6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CLCN6 were set to 33217309 Phenotypes for gene: CLCN6 were set to Neurodegeneration with brain iron accumulation 5, MIM# 300894 Review for gene: CLCN6 was set to GREEN