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lissencephaly 10 (LIS10) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

lissencephaly 10

MONDO:0030031

Also known as:LIS10

Overview

GeneticsAutosomal dominant · CEP85L (chr 6)

ResearchLimited published research (3 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: EEG abnormality; and common findings: Focal impaired awareness seizure, Posterior predominant subcortical band heterotopia, Intellectual disability, and Atonic seizure and others. 27 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	19	Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) seizure

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

CEP85L encodes centrosomal protein 85L (805 aa). Plays an essential role in neuronal cell migration Highest expression in Testis (31.2 TPM) and Nerve Tibial (15.5 TPM).

Lissencephaly 10 is caused by mutations in the CEP85L gene on chromosome 6.

CEP85L is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for CEP85L is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 1 always present feature, 5 common features.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for lissencephaly 10.

4 publications have been identified in PubMed for lissencephaly 10. Kisho has analyzed 3 by research type. Research spans Review / Meta-Analysis (33%), Case Report / Case Series (33%), and Basic Science / Preclinical (33%).

Recent Publications

Hou PS (2026). [PMID: 42066409](https://pubmed.ncbi.nlm.nih.gov/42066409/). *Stem Cell Res*. [Basic Science / Preclinical]
Schumann I (2025). [PMID: 40850669](https://pubmed.ncbi.nlm.nih.gov/40850669/). *Eur J Med Genet*. [Review / Meta-Analysis]
Hsu JY (2025). [PMID: 39780902](https://pubmed.ncbi.nlm.nih.gov/39780902/). *Clin Case Rep*. [Case Report / Case Series]

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 1:00 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618873

Questions for Your Care Team

→Should I pursue genetic testing for CEP85L, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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lissencephaly 10

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

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Questions for Your Care Team

Questions for Your Care Team

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