ZIC5
Chr 13Zic family zinc finger 5
The ZIC5 protein is a zinc finger transcription factor essential for neural crest development, converting cells from epidermal fate to neural crest cell fate. Mutations cause autosomal dominant developmental disorders affecting neural crest-derived structures. The gene shows moderate constraint against loss-of-function variants (pLI 0.77, LOEUF 0.52), suggesting haploinsufficiency may be clinically relevant.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
257 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 93 | 0 | 93 |
Likely Pathogenic | 0 | 0 | 2 | 0 | 2 |
VUS | 0 | 130 | 9 | 0 | 139 |
Likely Benign | 0 | 10 | 1 | 4 | 15 |
Benign | 0 | 1 | 4 | 0 | 5 |
| Total | 0 | 141 | 109 | 4 | 254 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
ZIC5 · 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
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools