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MYH8

Synonyms
DA7, MyHC-peri, MyHC-pn, gtMHC-F
External resources
Summary
Myosins are actin-based motor proteins that function in the generation of mechanical force in eukaryotic cells. Muscle myosins are heterohexamers composed of 2 myosin heavy chains and 2 pairs of nonidentical myosin light chains. This gene encodes a member of the class II or conventional myosin heavy chains, and functions in skeletal muscle contraction. This gene is predominantly expressed in fetal skeletal muscle. This gene is found in a cluster of myosin heavy chain genes on chromosome 17. A mutation in this gene results in trismus-pseudocamptodactyly syndrome.

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
44
Likely pathogenic
0
VUS
1,056
Likely benign
2,062
Benign
2,161

Patient Phenotypes

Proportions of phenotypes among 44 patients carrying pathogenic or likely pathogenic variants on MYH8 gene are displayed below. The following symptoms were found in patients with a variant in MYH8. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
36.4%
Abnormality of the cardiovascular system
25%
Abnormality of the musculoskeletal system
25%
Abnormality of head or neck
18.2%
Abnormality of the ear
18.2%
Abnormality of the eye
15.9%
Abnormality of the integument
13.6%
Abnormality of metabolism homeostasis
9.1%
Growth abnormality
9.1%
Abnormality of blood and blood forming tissues
6.8%
Abnormality of limbs
6.8%
Abnormality of the digestive system
4.5%
Abnormality of the genitourinary system
4.5%
Abnormality of the immune system
4.5%
Abnormal cellular phenotype
2.3%
Abnormality of the respiratory system
2.3%
Neoplasm
2.3%
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%

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