CEP78
Chr 9ARcentrosomal protein 78
Also known as: C9orf81, CRDHL, IP63
This centrosomal protein regulates centriole duplication and cilia biogenesis by controlling the stability of key centrosomal proteins and facilitating PLK4 localization. Autosomal recessive mutations cause cone-rod dystrophy and hearing loss, affecting both retinal and auditory function through defects in primary cilia. The gene shows extremely low constraint against loss-of-function variants (pLI near zero), consistent with its recessive inheritance pattern.
Strong evidence — appropriate for clinical testing
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
CEP78 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools