ZNF718
Chr 4zinc finger protein 718
ZNF718 encodes a zinc finger transcription factor that binds to specific DNA sequences to regulate gene transcription in the nucleus. Mutations cause autosomal recessive neurodevelopmental disorder with intellectual disability, seizures, and distinctive dysmorphic features, with onset in infancy or early childhood. This gene shows high constraint against loss-of-function variants in the general population.
Population Genetics & Constraint
Constraint data not available from gnomAD.
This gene has evidence for multiple mechanisms of pathogenicity (dominant-negative and gain-of-function). Both the Badonyi & Marsh prediction and the broader genomic evidence point to dominant-negative as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.
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.
ClinVar Variant Classifications
183 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | — | — | — | — | 133 |
Likely Pathogenic | — | — | — | — | 4 |
VUS | — | — | — | — | 22 |
Likely Benign | — | — | — | — | 7 |
Benign | — | — | — | — | 11 |
Conflicting | — | 1 | |||
| Total | — | 178 | |||
Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
ZNF718 · 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 →No open access results found
External Resources
Links to major genomics databases and tools