ROBO1 Chromosome 3
Roundabout guidance receptor 1
Upload your DNA to see your personal genotypes for variants in ROBO1.
What This Gene Does
Bilateral symmetric nervous systems have special midline structures that establish a partition between the two mirror image halves. Some axons project toward and across the midline in response to long-range chemoattractants emanating from the midline. The product of this gene is a member of the immunoglobulin gene superfamily and encodes an integral membrane protein that functions in axon guidance and neuronal precursor cell migration. This receptor is activated by SLIT-family proteins, resulting in a repulsive effect on glioma cell guidance in the developing brain. A related gene is located at an adjacent region on chromosome 3. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]
Gene Info
Gene Group
"Fibronectin type III domain containing|I-set domain containing|Ig-like cell adhesion molecule family"
Locus Type
gene with protein product
Location
3p12.3
Ensembl
ENSG00000169855
Associated Conditions (21)
Heart
malformation of
ROBO1-related disorder
Congenital anomaly of kidney and urinary tract
Inborn genetic diseases
Congenital nystagmus
Nystagmus
congenital
autosomal recessive
Pituitary stalk interruption syndrome
Pituitary hormone deficiency
combined or isolated
8
Neurodevelopmental delay
Neurooculorenal syndrome
Tetralogy of Fallot
Bilateral renal agenesis
Increased nuchal translucency
Colon adenocarcinoma
Rhabdomyosarcoma
+1 more conditions
Key Variants
RS148625921
Conflicting classifications of pathogenicity
Heart, malformation of, ROBO1-related disorder
Health Risk
RS1705825244
Conflicting classifications of pathogenicity
Congenital anomaly of kidney and urinary tract, Congenital anomaly of kidney and urinary tract
Health Risk
RS189089312
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS199577218
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS199958211
Conflicting classifications of pathogenicity
Congenital nystagmus, Nystagmus, congenital
Health Risk
RS2081940708
Conflicting classifications of pathogenicity
Pituitary stalk interruption syndrome, Pituitary hormone deficiency, combined or isolated
Health Risk
RS34515208
Conflicting classifications of pathogenicity
Neurodevelopmental delay, ROBO1-related disorder, Neurodevelopmental delay
Health Risk
RS367940062
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS377297596
Conflicting classifications of pathogenicity
ROBO1-related disorder, Neurooculorenal syndrome, Nystagmus
Health Risk
RS538506408
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS545722249
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS756605964
Conflicting classifications of pathogenicity
Health Risk
All Variants (47)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS148625921 | Health Risk | Conflicting classifications of pathogenicity | Heart, malformation of, ROBO1-related disorder |
| RS1705825244 | Health Risk | Conflicting classifications of pathogenicity | Congenital anomaly of kidney and urinary tract, Congenital anomaly of kidney and urinary tract |
| RS189089312 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS199577218 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS199958211 | Health Risk | Conflicting classifications of pathogenicity | Congenital nystagmus, Nystagmus, congenital |
| RS2081940708 | Health Risk | Conflicting classifications of pathogenicity | Pituitary stalk interruption syndrome, Pituitary hormone deficiency, combined or isolated |
| RS34515208 | Health Risk | Conflicting classifications of pathogenicity | Neurodevelopmental delay, ROBO1-related disorder, Neurodevelopmental delay |
| RS367940062 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS377297596 | Health Risk | Conflicting classifications of pathogenicity | ROBO1-related disorder, Neurooculorenal syndrome, Nystagmus |
| RS538506408 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS545722249 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS756605964 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS768938856 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS80030397 | Health Risk | Conflicting classifications of pathogenicity | Congenital anomaly of kidney and urinary tract, Congenital anomaly of kidney and urinary tract |
| RS1017845770 | Health Risk | Likely pathogenic | Tetralogy of Fallot, Neurooculorenal syndrome, Tetralogy of Fallot |
| RS1703089925 | Health Risk | Likely pathogenic | Bilateral renal agenesis, Neurooculorenal syndrome, Bilateral renal agenesis |
| RS1706274257 | Health Risk | Likely pathogenic | Heart, malformation of, Heart |
| RS1706676495 | Health Risk | Likely pathogenic | Congenital anomaly of kidney and urinary tract, Neurooculorenal syndrome, Congenital anomaly of kidney and urinary tract |
| RS1707450601 | Health Risk | Likely pathogenic | Increased nuchal translucency, Increased nuchal translucency |
| RS2082671645 | Health Risk | Likely pathogenic | Bilateral renal agenesis, Neurooculorenal syndrome, Bilateral renal agenesis |
| RS2107397010 | Health Risk | Likely pathogenic | Congenital anomaly of kidney and urinary tract, Congenital anomaly of kidney and urinary tract |
| RS2107594330 | Health Risk | Likely pathogenic | — |
| RS2108073043 | Health Risk | Likely pathogenic | Congenital anomaly of kidney and urinary tract, Congenital anomaly of kidney and urinary tract |
| RS2471793457 | Health Risk | Likely pathogenic | — |
| RS2472101425 | Health Risk | Likely pathogenic | Pituitary hormone deficiency, combined or isolated, 8 |
| RS2472198025 | Health Risk | Likely pathogenic | ROBO1-related disorder, ROBO1-related disorder |
| RS2472632341 | Health Risk | Likely pathogenic | Colon adenocarcinoma, Colon adenocarcinoma |
| RS2546354841 | Health Risk | Likely pathogenic | ROBO1-related disorder, ROBO1-related disorder |
| RS772695815 | Health Risk | Likely pathogenic | ROBO1-related disorder, ROBO1-related disorder |
| RS774218793 | Health Risk | Likely pathogenic | — |
| RS1181501831 | Health Risk | Pathogenic | Rhabdomyosarcoma, Rhabdomyosarcoma |
| RS1706269517 | Health Risk | Pathogenic | Congenital anomaly of kidney and urinary tract, Neurooculorenal syndrome, Congenital anomaly of kidney and urinary tract |
| RS2081036277 | Health Risk | Pathogenic | Congenital anomaly of kidney and urinary tract, Neurooculorenal syndrome, Congenital anomaly of kidney and urinary tract |
| RS2107620759 | Health Risk | Pathogenic | Congenital anomaly of kidney and urinary tract, Congenital anomaly of kidney and urinary tract |
| RS2107823148 | Health Risk | Pathogenic | Short stature, Short stature |
| RS2471718612 | Health Risk | Pathogenic | — |
| RS2472352059 | Health Risk | Pathogenic | — |
| RS2545634068 | Health Risk | Pathogenic | — |
| RS371765552 | Health Risk | Pathogenic | — |
| RS777460645 | Health Risk | Pathogenic | Congenital anomaly of kidney and urinary tract, Congenital anomaly of kidney and urinary tract |
| RS781328659 | Health Risk | Pathogenic | Congenital anomaly of kidney and urinary tract, Neurooculorenal syndrome, Congenital anomaly of kidney and urinary tract |
| RS925005242 | Health Risk | Pathogenic | — |
| RS1431830142 | Health Risk | Pathogenic/Likely pathogenic | Tetralogy of Fallot, Tetralogy of Fallot |
| RS1439248218 | Health Risk | Pathogenic/Likely pathogenic | Pituitary stalk interruption syndrome, Pituitary stalk interruption syndrome |
| RS1705825067 | Health Risk | Pathogenic/Likely pathogenic | Pituitary stalk interruption syndrome, Pituitary stalk interruption syndrome |
| RS2081039925 | Health Risk | Pathogenic/Likely pathogenic | Congenital anomaly of kidney and urinary tract, Congenital anomaly of kidney and urinary tract |
| RS761322350 | Health Risk | Pathogenic/Likely pathogenic | — |