Home > Gene Browser > MYO3A

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

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
41
Likely pathogenic
0
VUS
2,595
Likely benign
1,310
Benign
1,474

Patient phenotypes

Proportions of phenotypes among 40 patients carring pathogenic or likely pathogenic variants on MYO3A gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
42.5%
Abnormality of the eye
27.5%
Abnormality of the musculoskeletal system
25%
Abnormality of limbs
15%
Growth abnormality
12.5%
Abnormality of head or neck
10%
Abnormality of the cardiovascular system
10%
Abnormality of the integument
10%
Abnormality of the digestive system
7.5%
Abnormality of the ear
7.5%
Abnormality of the immune system
7.5%
Abnormality of the endocrine system
5%
Abnormality of the genitourinary system
5%
Constitutional symptom
5%
Abnormal cellular phenotype
2.5%
Abnormality of blood and blood-forming tissues
2.5%
Abnormality of prenatal development or birth
2.5%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Neoplasm
0%

Have a question or need assistance? Ask here.

Send us your questions or comments related to the variant counts and/or patient phenotypes