Home > Gene Browser > DMD
DMD
- Synonyms
- BMD, CMD3B, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272, MRX85
- External resources
- NCBI1756
- OMIM300377
- EnsemblENSG00000198947
- HGNCHGNC:2928
- 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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