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IGFBP1

Synonyms
AFBP, IBP1, IGF-BP25, PP12, hIGFBP-1
External resources
Summary
This gene is a member of the insulin-like growth factor binding protein (IGFBP) family and encodes a protein with an IGFBP N-terminal domain and a thyroglobulin type-I domain. The encoded protein, mainly expressed in the liver, circulates in the plasma and binds both insulin-like growth factors (IGFs) I and II, prolonging their half-lives and altering their interaction with cell surface receptors. This protein is important in cell migration and metabolism. Low levels of this protein may be associated with impaired glucose tolerance, vascular disease and hypertension in human patients.

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
419
Likely benign
0
Benign
0

Patient phenotypes

Proportions of phenotypes among 21 patients carring pathogenic or likely pathogenic variants on IGFBP1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
66.7%
Abnormality of the eye
33.3%
Abnormality of head or neck
28.6%
Abnormality of the musculoskeletal system
28.6%
Abnormality of the integument
23.8%
Abnormality of the cardiovascular system
19%
Growth abnormality
19%
Abnormality of limbs
9.5%
Abnormality of the genitourinary system
9.5%
Abnormality of the immune system
9.5%
Abnormality of blood and blood-forming tissues
4.8%
Abnormality of the digestive system
4.8%
Abnormality of the ear
4.8%
Abnormality of the voice
4.8%
Constitutional symptom
4.8%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Neoplasm
0%

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