Malformations of cortical development
Gene: CEP85LEnsemblGeneIds (GRCh38): ENSG00000111860
EnsemblGeneIds (GRCh37): ENSG00000111860
CEP85L is in 5 panels
4 reviews
Sarah Leigh (Genomics England Curator)
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 8 Mar 2022, 3:13 p.m. | Last Modified: 8 Mar 2022, 3:13 p.m.
Panel Version: 2.131
Rachel Challis (Cambridge University Hospitals NHS Foundation Trust)
Recommend upgrade to Green gene, from Amber for PanelApp panels:
GMS - Malformations of cortical development (component of Super 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, 11:53 a.m. | Last Modified: 15 Jul 2021, 11:53 a.m.
Panel Version: 2.45
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
Arina Puzriakova (Genomics England Curator)
Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). There is sufficient evidence to rate this gene Green at the next GMS panel update (added 'for-review' tag).
At least 13 patients from 9 unrelated families with lissencephaly and heterozygous variants in the CEP85L gene. Mouse model supports a role in neuronal migration. Gene-disease association also included in OMIM.Created: 7 Dec 2020, 10:13 a.m. | Last Modified: 7 Dec 2020, 10:13 a.m.
Panel Version: 2.18
Zornitza Stark (Australian Genomics)
Thirteen individuals reported with mono allelic variants in this gene, inherited in two of the families. Mouse model had neuronal migration defects.
Sources: LiteratureCreated: 27 Feb 2020, 7:37 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Lissencephaly, posterior predominant
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Phenotypes
-
- Lissencephaly 10, OMIM:618873
- Lissencephaly 10, MONDO:0030031
- Tags
- Clinvar variants
- Variants in CEP85L
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Added Tag
Eleanor Williams (Genomics England Curator)Tag gene-checked tag was added to gene: CEP85L.
Removed Tag
Eleanor Williams (Genomics England Curator)Tag for-review was removed from gene: CEP85L.
Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source Expert Review Green was added to CEP85L. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: CEP85L were changed from Lissencephaly, posterior predominant to Lissencephaly 10, OMIM:618873; Lissencephaly 10, MONDO:0030031
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: CEP85L were set to 32097630
Added Tag
Arina Puzriakova (Genomics England Curator)Tag for-review tag was added to gene: CEP85L.
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: cep85l has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Australian Genomics)gene: CEP85L was added gene: CEP85L was added to Malformations of cortical development. Sources: Literature Mode of inheritance for gene: CEP85L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CEP85L were set to 32097630 Phenotypes for gene: CEP85L were set to Lissencephaly, posterior predominant Review for gene: CEP85L was set to GREEN