UNC5A
Chr 5unc-5 netrin receptor A
Also known as: UNC5H1
UNC5A encodes a netrin-1 receptor that mediates axon guidance and repulsion during nervous system development, promoting neurite outgrowth and triggering apoptosis when not bound to its ligand. Mutations cause congenital mirror movements, a neurological condition characterized by involuntary mirroring movements of the opposite limb during voluntary unilateral movements. The condition follows an autosomal dominant inheritance pattern.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Moderately missense-constrained (top ~2.5%)
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
162 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 | 54 | 0 | 54 |
Likely Pathogenic | 0 | 0 | 2 | 0 | 2 |
VUS | 0 | 88 | 5 | 0 | 93 |
Likely Benign | 0 | 1 | 1 | 1 | 3 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 0 | 89 | 62 | 1 | 152 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
UNC5A · 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