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BIN3

Synonyms
-
External resources
Summary
The product of this gene is a member of the BAR domain protein family. The encoded protein is comprised solely of a BAR domain which is predicted to form coiled-coil structures and proposed to mediate dimerization, sense and induce membrane curvature, and bind small GTPases. BAR domain proteins have been implicated in endocytosis, intracellular transport, and a diverse set of other processes.

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
43
Likely pathogenic
0
VUS
4,890
Likely benign
70
Benign
0

Patient phenotypes

Proportions of phenotypes among 43 patients carring pathogenic or likely pathogenic variants on BIN3 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
34.9%
Abnormality of the eye
32.6%
Abnormality of the musculoskeletal system
27.9%
Abnormality of head or neck
18.6%
Abnormality of the cardiovascular system
16.3%
Abnormality of the genitourinary system
14%
Abnormality of the immune system
11.6%
Abnormality of the ear
9.3%
Abnormality of the integument
9.3%
Abnormality of limbs
7%
Abnormality of the digestive system
7%
Growth abnormality
7%
Abnormality of blood and blood-forming tissues
4.7%
Abnormality of the respiratory system
4.7%
Abnormal cellular phenotype
2.3%
Abnormality of the endocrine system
2.3%
Abnormality of the voice
2.3%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Constitutional symptom
0%
Neoplasm
0%

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