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MYH2

Synonyms
IBM3, MYH2A, MYHSA2, MYHas8, MYPOP, MyHC-2A, MyHC-IIa
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 found in a cluster of myosin heavy chain genes on chromosome 17. A mutation in this gene results in inclusion body myopathy-3. Multiple alternatively spliced variants, encoding the same protein, have been identified.

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
15
Likely pathogenic
0
VUS
3,929
Likely benign
1,393
Benign
1,616

Patient Phenotypes

Proportions of phenotypes among 15 patients carrying pathogenic or likely pathogenic variants on MYH2 gene are displayed below. The following symptoms were found in patients with a variant in MYH2. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
60%
Abnormality of head or neck
40%
Abnormality of the eye
33.3%
Abnormality of the cardiovascular system
20%
Abnormality of the musculoskeletal system
20%
Abnormality of limbs
13.3%
Abnormality of the ear
13.3%
Growth abnormality
13.3%
Abnormality of metabolism homeostasis
6.7%
Abnormality of the digestive system
6.7%
Abnormality of the genitourinary system
6.7%
Abnormality of the immune system
6.7%
Abnormality of the integument
6.7%
Abnormal cellular phenotype
0%
Abnormality of blood and blood forming tissues
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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