Gene Information

MYH7

myosin heavy chain 7 [Source:HGNC Symbol;Acc:HGNC:7577]

protein_codingChromosome 14ENSG00000092054

Overview

MYH7 variants are associated with 7 diseases including congenital myopathy 7A, myosin storage, autosomal dominant and left ventricular noncompaction and 5 others, with 125 documented clinical phenotypes.

Associated Diseases

The MYH7 gene is associated with 7 medical conditions, including:

congenital myopathy 7A, myosin storage, autosomal dominant

MONDO:0008409

left ventricular noncompaction

MONDO:0018901

familial isolated dilated cardiomyopathy

MONDO:0700335

Ebstein anomaly

MONDO:0009144

MYH7-related skeletal myopathy

MONDO:0008050

myopathy, myosin storage, autosomal recessive

MONDO:0009708

classic multiminicore myopathy

MONDO:0017939

Clinical Phenotypes

Research has identified 125 phenotypic features associated with MYH7 variants:

Muscle weakness

HP:0001324

Mildly elevated creatine kinase

HP:0008180

Hypertrophic cardiomyopathy

HP:0001639

Preauricular pit

HP:0004467

Thoracic scoliosis

HP:0002943

Proximal muscle weakness

HP:0003701

Short stature

HP:0004322

Elevated circulating creatine kinase concentration

HP:0003236

Pelvic girdle muscle weakness

HP:0003749

Shoulder girdle muscle atrophy

HP:0003724

Sudden death

HP:0001699

Congestive heart failure

HP:0001635

Autosomal dominant inheritance

HP:0000006

Autosomal dominant inheritance

HP:0000006

Hypertrophic cardiomyopathy

HP:0001639

View all

ClinVar Variants

ClinVar contains 10 variants associated with MYH7. Below are some notable variants:

NM_000257.4(MYH7):c.4591A>G (p.Lys1531Glu)

Uncertain significance

VCV004528007