CEP135

Chr 4

centrosomal protein 135

Also known as: CEP4, KIAA0635, MCPH8

NCBI Gene: 9662ENSG00000174799UniProt: Q66GS9

This gene encodes a centrosomal protein, which acts as a scaffolding protein during early centriole biogenesis, and is also required for centriole-centriole cohesion during interphase. Mutations in this gene are associated with autosomal recessive primary microcephaly-8. [provided by RefSeq, Jun 2012]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtMicrocephaly 8, primary, autosomal recessive

Clinical highlights

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.
0
Active trials
10
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.81
LOEUF
LOF
Mechanism· G2P
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GeneReview available — CEP135
Authoritative clinical overview · Recommended first read
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Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.81LOEUF
pLI 0.000
Z-score 2.87
OE 0.64 (0.50–0.81)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.08Z-score
OE missense 0.99 (0.92–1.06)
565 obs / 570.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.64 (0.50–0.81)
0≤0.351.4
Missense OE?0.99 (0.92–1.06)
0≤0.61.4
Synonymous OE?0.93
0≤1.21.6
LoF obs/exp: 46 / 72.4Missense obs/exp: 565 / 570.4Syn Z: 0.80

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

CEP135 · protein map & ClinVar variants

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

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

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