GENE REFERENCE / HGNC:13433

ROBO3

roundabout guidance receptor 3

protein-coding gene11q24.2Gene information

What does this gene do?

The ROBO3 gene provides instructions for making a protein that is critical for the normal development of the nervous system. The protein is active in the developing spinal cord and in the brain (central nervous system). In particular, the ROBO3 protein is active in the brainstem, which connects the upper parts of the brain to the spinal cord. In the brainstem, the ROBO3 protein helps direct nerve cells (neurons) to their proper positions in a process called neuronal migration. The protein also helps guide the growth of axons, which are specialized extensions of neurons that transmit nerve impulses throughout the nervous system. Some axons are very long and connect neurons in the brain to those in the spinal cord and elsewhere in the body.

For the brain and body to communicate effectively, certain bundles of axons must cross from one side of the body to the other in the brainstem. These bundles include the axons of motor neurons, which transmit information about voluntary muscle movement, and the axons of sensory neurons, which transmit information about sensory input (such as touch, pain, and temperature). The ROBO3 protein plays a critical role during brain development to ensure that this crossing over occurs.

Source: MedlinePlus, National Library of Medicine. Source publication: 2025-04-07. Source review: 2025-04.

ClinGen reviews

ClinGen reviews the evidence linking a particular gene to a condition. Each rating below describes the strength of that link. It does not classify a variant in your DNA file.

Condition	Inheritance	Evidence
gaze palsy, familial horizontal, with progressive scoliosis 1MONDO:0020790 · Evaluated 2022-07-12	Autosomal recessive	DefinitiveBrain Malformations Gene Curation Expert Panel

ClinVar records

These numbers show what has been submitted to ClinVar. They cannot tell you how likely you are to have a condition.

Submitted alleles: 537
Submissions for variants in or overlapping this gene: 744
Submissions explicitly reporting this gene: 647
Alleles reported pathogenic / likely pathogenic: 51
VariationIDs with uncertain significance: 297
VariationIDs with conflicting classifications: 20

The rows count different things: alleles, submissions or VariationIDs. Their categories can overlap, so do not add them together. Pathogenic/likely pathogenic counts exclude structural variants that merely overlap a gene. A dash in the source means “not reported,” not zero.

NCBI produces the gene-summary file each week using counts recorded at the start of the month. The numbers may differ from those on the live ClinVar website. Read the field definitions ↗

View this gene in ClinVar ↗

YOUR DNA FILE

Can your DNA file tell you about ROBO3?

From a DNA test kit (such as 23andMe, AncestryDNA or MyHeritage). These kits check a fixed list of about 600,000 to 700,000 positions across your whole genome. ClinVar lists 51 alleles in ROBO3 reported as pathogenic or likely pathogenic. A kit checks only some of these positions, and often none of them.

From whole genome sequencing (a VCF file). Sequencing reads most of your genome. Your file lists the places where your DNA differs from the reference genome. Some regions are hard to sequence, including parts of some genes that have near-identical copies elsewhere, and a VCF file does not record which positions were read well.

If a variant is not in your file, that does not mean you don’t have it.

What BioDecode checks

BioDecode compares every variant in your file with ClinVar, on your own computer. For each match, it shows the ClinVar classification, the review status and the condition it was reported for. Your file is not uploaded.

A ClinVar classification applies to one particular variant and the condition it was reported for. It does not tell you about other variants in ROBO3.

BioDecode cannot fill gaps in your test, diagnose a condition or replace clinical testing.

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