ROBO1
Chr 3ARADroundabout guidance receptor 1
Also known as: CPHD8, DUTT1, NORS, NYS8, SAX3
The protein functions as a receptor for SLIT1 and SLIT2 that mediates axonal navigation and neuronal migration during brain development, particularly guiding axons at the ventral midline of the neural tube. Mutations cause congenital nystagmus, neurooculorenal syndrome, and combined or isolated pituitary hormone deficiency with both autosomal recessive and autosomal dominant inheritance patterns reported. The gene is highly constrained against loss-of-function mutations (LOEUF 0.597), reflecting its critical role in nervous system development.
Limited evidence — not for standalone diagnostic reporting
2 total gene-disease associations curated
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
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
ROBO1 · 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