Early onset or syndromic epilepsy

Gene: CEP85L

The rating of this gene has been updated following NHS Genomic Medicine Service approval.

Created: 3 Mar 2022, 5:34 p.m. | Last Modified: 3 Mar 2022, 5:34 p.m.

Panel Version: 2.491

Green List (high evidence)

Recommend upgrade to Green gene, from Amber for PanelApp panel:
GMS - R59 Genetic epilepsy syndromes

Monoallelic missense and loss of function variants in CEP85L are associated with Lissencephaly (OMIM 618873). Over 10 unrelated families have been described with de novo and inherited rare variants in CEP85L. Functional work in cell lines and knockdown of Cep85l in mice confirms the role of CEP85L in neuronal migration.
PMID: 32097629
PMID: 32097630

Created: 15 Jul 2021, 1:02 p.m. | Last Modified: 15 Jul 2021, 1:02 p.m.

Panel Version: 2.394

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Intellectual disability; epilepsy, lissencephaly

Publications

• 32097629
• 32097630

Variants in this GENE are reported as part of current diagnostic practice

Green List (high evidence)

Tsai et al 2020 - 13 patients from 9 unrelated families - patients opresented with variable seizure types -including focal impaired awareness, tonic, clonic, myoclonic and generalised. Seizures were often intractable. Brain imaging showed all patients had posterior predominant lissencephaly, pachygyria and/or subcortical band heterotopia.

Created: 27 Jan 2021, 5:05 p.m. | Last Modified: 27 Jan 2021, 5:05 p.m.

Panel Version: 2.274

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Lissencephaly 10

Publications

• 32097630

Green List (high evidence)

Comment on list classification: There is sufficient evidence to rate this gene Green at the next GMS panel update (added 'for-review' tag).

Created: 7 Dec 2020, 10:27 a.m. | Last Modified: 7 Dec 2020, 10:27 a.m.

Panel Version: 2.229

- PMID: 32097630 (2020) - 13 patients from 9 unrelated families with lissencephaly and heterozygous variants in the CEP85L gene. Seizures are part of the phenotype, present in all cases (except 1 unknown) which were intractable in most. Age of seizure onset was variable, ranging from 5 months to 14 years. Mouse model supports a role of CEP85L in neuronal migration. Gene-disease association included in OMIM.
Sources: Literature

Created: 7 Dec 2020, 10:27 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Lissencephaly 10, OMIM:618873; Lissencephaly 10, MONDO:0030031

Publications

• 32097630
• 32097629