LCA5
Chr 6lebercilin LCA5
Also known as: C6orf152
This gene encodes a protein that is thought to be involved in centrosomal or ciliary functions. Mutations in this gene cause Leber congenital amaurosis type V. Alternatively spliced transcript variants are described. [provided by RefSeq, Oct 2009]
ResearchGenerating clinical summary…
Primary Disease Associations & Inheritance
UniProtLeber congenital amaurosis 5
Clinical highlights
Gene-disease validity (ClinGen)
LCA5-related retinopathy · ARDefinitivesufficient 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.
Some data sources returned errors (1)
omim: Error: OMIM fetch failed: 429
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.65LOEUF
pLI 0.000
Z-score 3.09
OE 0.41 (0.27–0.65)
Typical tolerance to LoF variation
Missense Constraint?
-0.62Z-score
OE missense 1.10 (1.00–1.19)
370 obs / 337.9 exp
Tolerant to missense variation
Observed / Expected Ratios?
LoF OE?0.41 (0.27–0.65)
0≤0.351.4
Missense OE?1.10 (1.00–1.19)
0≤0.61.4
Synonymous OE?1.13
0≤1.21.6
LoF obs/exp: 13 / 31.8Missense obs/exp: 370 / 337.9Syn Z: -1.14
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
LCA5 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
External Resources
Links to major genomics databases and tools