FZD6
Chr 8ARfrizzled class receptor 6
Also known as: FZ-6, FZ6, HFZ6, NDNC1, NDNC10
This gene encodes a 7-transmembrane receptor for Wnt signaling proteins that regulates canonical Wnt/beta-catenin signaling and planar cell polarity, particularly in inner ear sensory cells and during neural tube closure. Autosomal recessive mutations cause nonsyndromic congenital nail disorder, with the gene showing low constraint to loss-of-function variation. The phenotype appears to be congenital and primarily affects nail development without other syndromic features.
Primary Disease Associations & Inheritance
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
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
155 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 | 1 | 2 | 42 | 0 | 45 |
Likely Pathogenic | 1 | 0 | 0 | 0 | 1 |
VUS | 0 | 81 | 7 | 0 | 88 |
Likely Benign | 0 | 4 | 1 | 4 | 9 |
Benign | 0 | 1 | 1 | 1 | 3 |
Conflicting | — | 1 | |||
| Total | 2 | 88 | 51 | 5 | 147 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
FZD6 · 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