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IGSF11

Synonyms
BT-IgSF, CT119, CXADRL1, Igsf13, VSIG3
External resources
Summary
IGSF11 is an immunoglobulin (Ig) superfamily member that is preferentially expressed in brain and testis. It shares significant homology with coxsackievirus and adenovirus receptor (CXADR; MIM 602621) and endothelial cell-selective adhesion molecule (ESAM).

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
5
Likely pathogenic
0
VUS
12,731
Likely benign
449
Benign
0

Patient phenotypes

Proportions of phenotypes among 5 patients carring pathogenic or likely pathogenic variants on IGSF11 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of head or neck
80%
Abnormality of the musculoskeletal system
80%
Abnormality of the nervous system
80%
Abnormality of the ear
60%
Abnormality of the eye
60%
Abnormality of limbs
40%
Abnormality of the cardiovascular system
40%
Abnormality of the genitourinary system
40%
Growth abnormality
40%
Abnormality of the integument
20%
Abnormality of the respiratory system
20%
Abnormality of the voice
20%
Constitutional symptom
20%
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 digestive system
0%
Abnormality of the endocrine system
0%
Abnormality of the immune system
0%
Abnormality of the thoracic cavity
0%
Neoplasm
0%

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