Home > Gene Browser > DMD

DMD

Synonyms
BMD, CMD3B, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272, MRX85
External resources
Summary
This gene spans a genomic range of greater than 2 Mb and encodes a large protein containing an N-terminal actin-binding domain and multiple spectrin repeats. The encoded protein forms a component of the dystrophin-glycoprotein complex (DGC), which bridges the inner cytoskeleton and the extracellular matrix. Deletions, duplications, and point mutations at this gene locus may cause Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), or cardiomyopathy. Alternative promoter usage and alternative splicing result in numerous distinct transcript variants and protein isoforms for this gene.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
46
Likely pathogenic
1
VUS
7,087
Likely benign
11,895
Benign
8,833

Patient phenotypes

Proportions of phenotypes among 37 patients carrying pathogenic or likely pathogenic variants on DMD gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the musculoskeletal system
64.9%
Abnormality of the nervous system
48.6%
Abnormality of limbs
35.1%
Abnormality of head or neck
13.5%
Abnormality of the cardiovascular system
10.8%
Growth abnormality
10.8%
Abnormality of the integument
8.1%
Abnormality of the ear
5.4%
Abnormality of the eye
5.4%
Abnormality of the immune system
5.4%
Abnormality of the respiratory system
5.4%
Abnormality of the digestive system
2.7%
Abnormality of the genitourinary system
2.7%
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 endocrine system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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