Myopathy, myosin storage, autosomal recessive: genes and variants

Genes linked to Myopathy, myosin storage, autosomal recessive

• MYH7: Myosin-7

  Its beta-myosin motor converts ATP hydrolysis into force within cardiac and slow-skeletal-muscle sarcomeres. Pathogenic variants are major causes of hypertrophic and dilated cardiomyopathy and can also produce inherited skeletal myopathies.

  6 disease-causing and 62 uncertain variants in MYH7 are linked to Myopathy, myosin storage, autosomal recessive.

Where Myopathy, myosin storage, autosomal recessive variants cluster

• MYH7 Myosin motor (positions 85–778): 4 of 6 disease-causing changes, 1.9× more than its size predicts.

Known disease-causing variants in Myopathy, myosin storage, autosomal recessive

Same protein, different disease

• Hypertrophic cardiomyopathy is also caused by MYH7 variants; they fall mostly in different places as the Myopathy, myosin storage, autosomal recessive variants (239 disease-causing).
• Dilated cardiomyopathy is also caused by MYH7 variants; they fall mostly in different places as the Myopathy, myosin storage, autosomal recessive variants (21 disease-causing).
• Primary dilated cardiomyopathy is also caused by MYH7 variants; they fall mostly in different places as the Myopathy, myosin storage, autosomal recessive variants (15 disease-causing).
• Myosin storage myopathy is also caused by MYH7 variants; they fall mostly in different places as the Myopathy, myosin storage, autosomal recessive variants (13 disease-causing).
• MYH7-related skeletal myopathy is also caused by MYH7 variants; they fall mostly in different places as the Myopathy, myosin storage, autosomal recessive variants (7 disease-causing).

Diseases related to Myopathy, myosin storage, autosomal recessive

• Hypertrophic cardiomyopathy, also linked to MYH7
• Dilated cardiomyopathy, also linked to MYH7
• Primary dilated cardiomyopathy, also linked to MYH7
• Primary familial hypertrophic cardiomyopathy, also linked to MYH7
• Myosin storage myopathy, also linked to MYH7
• Left ventricular noncompaction, also linked to MYH7
• Primary familial dilated cardiomyopathy, also linked to MYH7
• Familial cardiomyopathy, also linked to MYH7
• Restrictive cardiomyopathy, also linked to MYH7
• MYH7-related skeletal myopathy, also linked to MYH7
• Congenital myopathy with fiber type disproportion, also linked to MYH7
• Myopathy, also linked to MYH7

Frequently asked questions

Which genes are linked to Myopathy, myosin storage, autosomal recessive?

In CATVariant, Myopathy, myosin storage, autosomal recessive is linked to 1 analyzed protein: MYH7 (Myosin-7).

How many genetic variants are linked to Myopathy, myosin storage, autosomal recessive?

68 variants: 6 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 62 are of uncertain significance or have conflicting reports.

Which uncertain variants in Myopathy, myosin storage, autosomal recessive look disease-causing?

None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.

About this data

Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.

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