CEP85L

Chr 6

centrosomal protein 85L

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

NCBI Gene: 387119 ENSG00000111860 UniProt: Q5SZL2

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.

ResearchSummary from RefSeq, OMIM, UniProt

The protein encoded by this gene was identified as a breast cancer antigen. Nothing more is known of its function at this time. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtLissencephaly 10

Clinical highlights

Gene-disease validity (ClinGen)

lissencephaly 10 · ADDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.71

LOEUF

LOF

Mechanism· G2P

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