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ROBO2

Synonyms
SAX3
External resources
Summary
The protein encoded by this gene belongs to the ROBO family, part of the immunoglobulin superfamily of proteins that are highly conserved from fly to human. The encoded protein is a transmembrane receptor for the slit homolog 2 protein and functions in axon guidance and cell migration. Mutations in this gene are associated with vesicoureteral reflux, characterized by the backward flow of urine from the bladder into the ureters or the kidney. Alternative splicing results in multiple transcript variants.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
72
Likely pathogenic
0
VUS
55,698
Likely benign
98,480
Benign
2,529

Patient phenotypes

Proportions of phenotypes among 69 patients carrying pathogenic or likely pathogenic variants on ROBO2 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
26.1%
Abnormality of the musculoskeletal system
15.9%
Abnormality of head or neck
14.5%
Growth abnormality
8.7%
Abnormality of blood and blood-forming tissues
7.2%
Abnormality of the cardiovascular system
7.2%
Abnormality of the digestive system
7.2%
Abnormality of the eye
7.2%
Abnormality of the integument
7.2%
Abnormality of limbs
5.8%
Abnormality of the immune system
5.8%
Abnormality of the ear
4.3%
Abnormality of the genitourinary system
4.3%
Abnormality of prenatal development or birth
1.4%
Abnormality of the endocrine system
1.4%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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