CEP85L

Chr 6AD

centrosomal protein 85L

Also known as: C6orf204, LIS10, NY-BR-15, bA57K17.2

NCBI Gene: 387119ENSG00000111860UniProt: Q5SZL2OMIM: 618865

The protein plays an essential role in neuronal cell migration during brain development. Mutations cause lissencephaly 10, a severe brain malformation disorder characterized by abnormal cortical development and intellectual disability. The condition follows an autosomal dominant inheritance pattern.

OMIMResearchSummary from RefSeq, OMIM, UniProt
LOFmechanismADLOEUF 0.711 OMIM phenotype
Clinical Summary— CEP85L
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Gene-Disease Validity (ClinGen)
lissencephaly 10 · ADDefinitive

Definitive — sufficient evidence for diagnostic panels

⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
0.71LOEUF
pLI 0.000
Z-score 3.09
OE 0.49 (0.35–0.71)
Tolerant

Typical tolerance to LoF variation

Missense Constraint
0.40Z-score
OE missense 0.94 (0.87–1.03)
374 obs / 396.5 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.49 (0.35–0.71)
0≤0.351.4
Missense OE0.94 (0.87–1.03)
0≤0.61.4
Synonymous OE1.05
0≤1.21.6
LoF obs/exp: 21 / 42.8Missense obs/exp: 374 / 396.5Syn Z: -0.43
Curated Mechanism (G2P)Gene2Phenotype (DDG2P) ↗
definitiveCEP85L-related posterior-predominant lissencephalyLOFAD
DN
0.6840th %ile
GOF
0.5758th %ile
LOF
0.4134th %ile

The highest-scoring mechanism for this gene is dominant-negative.

DNprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

CEP85L · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Generation of an induced pluripotent stem cell line (KCGMHi001-A) from a patient with CEP85L related posterior predominant lissencephaly (LIS10).
Hou PS et al.·Stem Cell Res
2026
Overview and expansion of CEP85L-associated lissencephaly.
Schumann I et al.·Eur J Med Genet
2025Review
Further characterization of CEP85L-associated lissencephaly type 10: Report of a three-generation family and review of the literature.
Leduc-Pessah H et al.·Am J Med Genet A
2023Review
Overcoming CEP85L-ROS1, MKRN1-BRAF and MET amplification as rare, acquired resistance mutations to Osimertinib.
Kian W et al.·Front Oncol
2023Open Access
Posterior Lissencephaly Associated with Subcortical Band Heterotopia Due to a Variation in the CEP85L Gene: A Case Report and Refining of the Phenotypic Spectrum.
Contrò G et al.·Genes (Basel)
2021Open AccessCase report
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients