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ITGA7

Synonyms
-
External resources
Summary
The protein encoded by this gene belongs to the integrin alpha chain family. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. They mediate a wide spectrum of cell-cell and cell-matrix interactions, and thus play a role in cell migration, morphologic development, differentiation, and metastasis. This protein functions as a receptor for the basement membrane protein laminin-1. It is mainly expressed in skeletal and cardiac muscles and may be involved in differentiation and migration processes during myogenesis. Defects in this gene are associated with congenital myopathy. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene.

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
22
Likely pathogenic
7
VUS
4,630
Likely benign
1,426
Benign
954

Patient phenotypes

Proportions of phenotypes among 23 patients carring pathogenic or likely pathogenic variants on ITGA7 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
52.2%
Abnormality of the eye
34.8%
Abnormality of head or neck
21.7%
Abnormality of the musculoskeletal system
21.7%
Growth abnormality
21.7%
Abnormality of the cardiovascular system
17.4%
Abnormality of limbs
13%
Abnormality of the integument
13%
Abnormality of the digestive system
8.7%
Abnormality of the endocrine system
8.7%
Abnormality of the immune system
8.7%
Abnormality of the genitourinary system
4.3%
Neoplasm
4.3%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the ear
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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