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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

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
15
Likely pathogenic
0
VUS
5,776
Likely benign
3,195
Benign
0

Patient phenotypes

Proportions of phenotypes among 14 patients carrying pathogenic or likely pathogenic variants on IGFBP7 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
50%
Abnormality of the nervous system
42.9%
Abnormality of head or neck
35.7%
Abnormality of the cardiovascular system
21.4%
Abnormality of the integument
21.4%
Abnormality of the musculoskeletal system
21.4%
Abnormality of the immune system
14.3%
Growth abnormality
14.3%
Abnormality of prenatal development or birth
7.1%
Abnormality of the digestive system
7.1%
Abnormality of the genitourinary system
7.1%
Neoplasm
7.1%
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%

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