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IGSF23

Synonyms
-
External resources
Summary
This gene encodes a protein that has one immunoglobulin (Ig) domain and is a member of the immunoglobulin superfamily. Proteins in this superfamily are usually found on or in cell membranes and act as receptors in immune response pathways.

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
21
Likely pathogenic
0
VUS
1,922
Likely benign
1,858
Benign
0

Patient Phenotypes

Proportions of phenotypes among 21 patients carrying pathogenic or likely pathogenic variants on IGSF23 gene are displayed below. The following symptoms were found in patients with a variant in IGSF23. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
38.1%
Abnormality of the nervous system
38.1%
Abnormality of the musculoskeletal system
28.6%
Abnormality of head or neck
23.8%
Abnormality of the immune system
23.8%
Growth abnormality
23.8%
Abnormality of limbs
14.3%
Abnormality of metabolism homeostasis
9.5%
Abnormality of the cardiovascular system
9.5%
Abnormality of the ear
9.5%
Abnormality of the genitourinary system
9.5%
Abnormal cellular phenotype
4.8%
Abnormality of blood and blood forming tissues
4.8%
Abnormality of the endocrine system
4.8%
Abnormality of the integument
4.8%
Abnormality of the voice
4.8%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the digestive system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Constitutional symptom
0%
Neoplasm
0%

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