ROBO3
Chr 11ARroundabout guidance receptor 3
The ROBO3 protein is a transmembrane receptor that guides commissural axons across the midline during neural tube development by regulating responses to multiple guidance cues including NELL2, SLIT proteins, and Netrin-1. Mutations cause horizontal gaze palsy with progressive scoliosis, an autosomal recessive disorder with congenital absence of horizontal eye movements and progressive scoliosis due to failure of corticospinal and somatosensory tracts to cross at the medulla. This gene is extremely intolerant to loss-of-function variants, reflecting its critical role in early nervous system development.
Definitive — sufficient evidence for diagnostic panels
Some data sources returned errors (1)
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Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
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
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
ROBO3 · 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
External Resources
Links to major genomics databases and tools