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ITGAD

Synonyms
ADB2, CD11D
External resources
Summary
This gene belongs to the beta-2 integrin family of membrane glycoproteins, which are are composed of non-covalently linked alpha and beta subunits to form a heterodimer. It encodes the alpha subunit of the cell surface heterodimers and is involved in the activation and adhesion functions of leukocytes. The gene is located about 11kb downstream of the integrin subunit alpha X gene, another member of the integrin family. It is expressed in the tissue and circulating myeloid leukocytes. Alternative splicing results in multiple transcript variants.

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
15,501
Likely benign
1,128
Benign
0

Patient phenotypes

Proportions of phenotypes among 42 patients carring pathogenic or likely pathogenic variants on ITGAD gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
42.9%
Abnormality of the musculoskeletal system
33.3%
Abnormality of head or neck
28.6%
Abnormality of the cardiovascular system
21.4%
Growth abnormality
19%
Abnormality of the eye
16.7%
Abnormality of limbs
14.3%
Abnormality of the integument
14.3%
Abnormality of the digestive system
11.9%
Abnormality of the ear
7.1%
Abnormality of prenatal development or birth
4.8%
Abnormality of the endocrine system
4.8%
Abnormality of the genitourinary system
4.8%
Abnormality of the immune system
4.8%
Abnormality of blood and blood-forming tissues
2.4%
Abnormality of the breast
2.4%
Abnormality of the respiratory system
2.4%
Constitutional symptom
2.4%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Neoplasm
0%

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