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MYO3A

Synonyms
DFNB30
External resources
Summary
The protein encoded by this gene belongs to the myosin superfamily. Myosins are actin-dependent motor proteins and are categorized into conventional myosins (class II) and unconventional myosins (classes I and III through XV) based on their variable C-terminal cargo-binding domains. Class III myosins, such as this one, have a kinase domain N-terminal to the conserved N-terminal motor domains and are expressed in photoreceptors. The protein encoded by this gene plays an important role in hearing in humans. Three different recessive, loss of function mutations in the encoded protein have been shown to cause nonsyndromic progressive hearing loss. Expression of this gene is highly restricted, with the strongest expression in retina and cochlea.

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
80
Likely pathogenic
0
VUS
11,098
Likely benign
5,852
Benign
2,153

Patient phenotypes

Proportions of phenotypes among 79 patients carrying pathogenic or likely pathogenic variants on MYO3A gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
34.2%
Abnormality of the musculoskeletal system
22.8%
Abnormality of the eye
17.7%
Abnormality of head or neck
15.2%
Abnormality of the cardiovascular system
15.2%
Abnormality of the ear
13.9%
Abnormality of limbs
12.7%
Abnormality of the genitourinary system
12.7%
Abnormality of the integument
12.7%
Growth abnormality
8.9%
Abnormality of the endocrine system
7.6%
Abnormality of the immune system
7.6%
Abnormality of blood and blood-forming tissues
6.3%
Abnormality of the digestive system
6.3%
Abnormality of the respiratory system
3.8%
Abnormal cellular phenotype
2.5%
Abnormality of prenatal development or birth
2.5%
Constitutional symptom
2.5%
Neoplasm
2.5%
Abnormality of the breast
1.3%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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