MYH1

myosin heavy chain 1
OMIM: 160730, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green MYH1 in Mendeliome


Version 2.64

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Hearing loss, autosomal recessive MONDO:0019588, MYH1-related
  • rhabdomyolysis, susceptibility to MONDO:0979250, MYH1-related

Green MYH1 in Deafness_IsolatedAndComplex


Level 2: Hearing and ear disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
  • Expert Review Green
Phenotypes
  • Hearing loss, autosomal recessive MONDO:0019588

Amber MYH1 in Rhabdomyolysis and Metabolic Myopathy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

Component of the following Super Panels:

  • Myopathy Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • 3 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    • Literature
    Phenotypes
    • rhabdomyolysis, susceptibility to MONDO:0979250, MYH1-related