Neuronal ceroid lipofuscinosis
Gene: CLCN6
Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least three de novo occurrances of a single variant reported.Created: 17 Mar 2021, 6:31 p.m. | Last Modified: 17 Mar 2021, 6:31 p.m.
Panel Version: 1.23
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.Created: 17 Mar 2021, 6:27 p.m. | Last Modified: 17 Mar 2021, 6:27 p.m.
Panel Version: 1.23
Comment on phenotypes: There is no Mondo term for this phenotype at presentCreated: 17 Mar 2021, 6:24 p.m. | Last Modified: 17 Mar 2021, 6:24 p.m.
Panel Version: 1.21
PMID 33217309: 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.
Previously, monoallelic variants reported in 3 families with BPEI, but functional data/segregation not compelling.
Mouse knockout model has features of NCL.Created: 9 Dec 2020, 8:08 a.m. | Last Modified: 9 Dec 2020, 8:08 a.m.
Panel Version: 1.4
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Neurodegeneration; Benign partial epilepsy; febrile seizures; NCL
Publications
Mode of inheritance
Unknown
Variants in this GENE are reported as part of current diagnostic practice
Tag Q2_21_rating tag was added to gene: CLCN6.
Gene: clcn6 has been classified as Amber List (Moderate Evidence).
Mode of inheritance for gene: CLCN6 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CLCN6 were changed from to Neurodegeneration, childhood-onset, hypotonia, respiratory insufficiency and brain imaging abnormalities OMIM:619173
Publications for gene: CLCN6 were set to 29667327; 26658788; 25794116
Publications for gene: CLCN6 were set to
gene: CLCN6 was added gene: CLCN6 was added to Neuronal ceroid lipofuscinosis. Sources: London North GLH,NHS GMS,Expert Review Red Mode of inheritance for gene: CLCN6 was set to Unknown