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SLIT3

Synonyms
MEGF5, SLIL2, SLIT1, Slit-3, slit2
External resources
Summary
The protein encoded by this gene is secreted, likely interacting with roundabout homolog receptors to effect cell migration. Two transcript variants encoding different isoforms have been found for this gene.

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
9
Likely pathogenic
11
VUS
7,445
Likely benign
4,684
Benign
0

Patient phenotypes

Proportions of phenotypes among 20 patients carrying pathogenic or likely pathogenic variants on SLIT3 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the musculoskeletal system
50%
Abnormality of the nervous system
45%
Abnormality of head or neck
30%
Abnormality of the integument
25%
Growth abnormality
20%
Abnormality of limbs
15%
Abnormality of the digestive system
15%
Abnormality of the cardiovascular system
10%
Abnormality of the eye
10%
Abnormality of the genitourinary system
10%
Abnormality of the immune system
10%
Abnormality of blood and blood-forming tissues
5%
Abnormality of the ear
5%
Abnormality of the respiratory system
5%
Constitutional symptom
5%
Neoplasm
5%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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