Early onset or syndromic epilepsy
Gene: CEP85LThe 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
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: 32097630Created: 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
Variants in this GENE are reported as part of current diagnostic practice
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
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: LiteratureCreated: 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
Tag gene-checked tag was added to gene: CEP85L.
Tag for-review was removed from gene: CEP85L.
Source Expert Review Green was added to CEP85L. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: cep85l has been classified as Amber List (Moderate Evidence).
gene: CEP85L was added gene: CEP85L was added to Genetic epilepsy syndromes. Sources: Literature for-review tags were added to gene: CEP85L. Mode of inheritance for gene: CEP85L was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CEP85L were set to 32097630; 32097629 Phenotypes for gene: CEP85L were set to Lissencephaly 10, OMIM:618873; Lissencephaly 10, MONDO:0030031 Review for gene: CEP85L was set to GREEN