FZD7
Chr 2frizzled class receptor 7
Also known as: FzE3
The FZD7 protein is a seven-transmembrane receptor for Wnt signaling proteins that activates the canonical beta-catenin pathway and non-canonical Wnt responses involved in cell polarity and tissue morphogenesis. Mutations cause autosomal recessive retinal dystrophy, with patients developing progressive vision loss typically beginning in childhood. FZD7 is moderately constrained against loss-of-function variants, reflecting its important role in retinal development and maintenance.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Moderately missense-constrained (top ~2.5%)
This gene has evidence for multiple mechanisms of pathogenicity (gain-of-function and dominant-negative). Both the Badonyi & Marsh prediction and the broader genomic evidence point to gain-of-function 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
97 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 | 30 | 0 | 30 |
Likely Pathogenic | 0 | 0 | 1 | 0 | 1 |
VUS | 0 | 60 | 3 | 0 | 63 |
Likely Benign | 0 | 0 | 0 | 1 | 1 |
Benign | 0 | 1 | 0 | 1 | 2 |
| Total | 0 | 61 | 34 | 2 | 97 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
FZD7 · 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