CEP85L

Chr 6AD

centrosomal protein 85L

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

NCBI Gene: 387119 ENSG00000111860 UniProt: Q5SZL2 OMIM: 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.

OMIM 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]

OMIM ResearchGenerating clinical summary…

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

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Population Constraint (gnomAD)

Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

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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 OE?0.49 (0.35–0.71)

0≤0.351.4

Missense OE?0.94 (0.87–1.03)

0≤0.61.4

Synonymous OE?1.05

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

This gene — mechanism propensity

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.