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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

Variant classification counts according to ACMG guideline on all identified variants among our tested samples are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
14
Likely pathogenic
0
VUS
7,063
Likely benign
1,358
Benign
0

Patient phenotypes

Proportions of phenotypes among 14 patients carring pathogenic or likely pathogenic variants on SLIT3 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the musculoskeletal system
57.1%
Abnormality of the nervous system
50%
Abnormality of head or neck
35.7%
Growth abnormality
21.4%
Abnormality of the integument
14.3%
Abnormality of limbs
7.1%
Abnormality of the digestive system
7.1%
Abnormality of the eye
7.1%
Abnormality of the immune system
7.1%
Abnormality of the respiratory system
7.1%
Constitutional symptom
7.1%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the cardiovascular system
0%
Abnormality of the ear
0%
Abnormality of the endocrine system
0%
Abnormality of the genitourinary system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Neoplasm
0%

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