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MADCAM1

Synonyms
MACAM1
External resources
Summary
The protein encoded by this gene is an endothelial cell adhesion molecule that interacts preferentially with the leukocyte beta7 integrin LPAM-1 (alpha4beta7), L-selectin, and VLA-4 (alpha4beta1) on myeloid cells to direct leukocytes into mucosal and inflamed tissues. It is a member of the immunoglobulin family and is similar to ICAM1 and VCAM1. At least seven alternatively spliced transcripts encoding different protein isoforms have been found for this gene, but the full-length nature of some variants has not been determined.

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
94
Likely pathogenic
277
VUS
14,808
Likely benign
259
Benign
0

Patient phenotypes

Proportions of phenotypes among 200 patients carring pathogenic or likely pathogenic variants on MADCAM1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
40%
Abnormality of the musculoskeletal system
27.5%
Abnormality of the cardiovascular system
22%
Abnormality of head or neck
18.5%
Abnormality of the ear
17.5%
Abnormality of the eye
17.5%
Growth abnormality
13.5%
Abnormality of the genitourinary system
8.5%
Abnormality of the integument
8.5%
Abnormality of limbs
7.5%
Abnormality of the endocrine system
5%
Abnormality of the digestive system
4.5%
Abnormality of the respiratory system
4.5%
Abnormality of the immune system
4%
Neoplasm
4%
Abnormality of blood and blood-forming tissues
3%
Abnormal cellular phenotype
0.5%
Abnormality of prenatal development or birth
0.5%
Abnormality of the breast
0.5%
Constitutional symptom
0.5%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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