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IGFBP7

Synonyms
AGM, FSTL2, IBP-7, IGFBP-7, IGFBP-7v, IGFBPRP1, MAC25, PSF, RAMSVPS, TAF
External resources
Summary
This gene encodes a member of the insulin-like growth factor (IGF)-binding protein (IGFBP) family. IGFBPs bind IGFs with high affinity, and regulate IGF availability in body fluids and tissues and modulate IGF binding to its receptors. This protein binds IGF-I and IGF-II with relatively low affinity, and belongs to a subfamily of low-affinity IGFBPs. It also stimulates prostacyclin production and cell adhesion. Alternatively spliced transcript variants encoding different isoforms have been described for this gene, and one variant has been associated with retinal arterial macroaneurysm (PMID:21835307).

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
10
Likely pathogenic
0
VUS
2,930
Likely benign
2,040
Benign
1

Patient phenotypes

Proportions of phenotypes among 10 patients carring pathogenic or likely pathogenic variants on IGFBP7 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
60%
Abnormality of head or neck
50%
Abnormality of the cardiovascular system
30%
Abnormality of the musculoskeletal system
30%
Abnormality of the nervous system
30%
Abnormality of the immune system
20%
Abnormality of the integument
20%
Growth abnormality
20%
Abnormality of prenatal development or birth
10%
Abnormality of the digestive system
10%
Abnormality of the genitourinary system
10%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of limbs
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the ear
0%
Abnormality of the endocrine system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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