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DAG1

Synonyms
156DAG, A3a, AGRNR, DAG, LGMDR16, MDDGA9, MDDGC7, MDDGC9
External resources
Summary
This gene encodes dystroglycan, a central component of dystrophin-glycoprotein complex that links the extracellular matrix and the cytoskeleton in the skeletal muscle. The encoded preproprotein undergoes O- and N-glycosylation, and proteolytic processing to generate alpha and beta subunits. Certain mutations in this gene are known to cause distinct forms of muscular dystrophy. Alternative splicing results in multiple transcript variants, all encoding the same protein.

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
0
Likely pathogenic
42
VUS
640
Likely benign
673
Benign
197

Patient phenotypes

Proportions of phenotypes among 42 patients carring pathogenic or likely pathogenic variants on DAG1 gene are displayed below.

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

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