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Severe Paediatric Disorders

Gene: MYH7

Green List (high evidence)

MYH7 (myosin heavy chain 7)
EnsemblGeneIds (GRCh38): ENSG00000092054
EnsemblGeneIds (GRCh37): ENSG00000092054
OMIM: 160760, Gene2Phenotype
MYH7 is in 15 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: MYH7; Recommended initial gene rating: Green List (high evidence); Phenotypes: Cardiomyopathy, dilated, 1S, 613426 (3) | Cardiomyopathy, hypertrophic, 1, 192600 (3) | Laing distal myopathy, 160500 (3) | Left ventricular noncompaction 5, 613426 (3) | Myopathy, myosin storage, autosomal dominant, 608358 (3) | Myopathy, myosin storage, autosomal recessive, 255160 (3) | Scapuloperoneal syndrome, myopathic type, 181430 (3); Mode of inheritance: Autosomal dominant | Autosomal dominant | Autosomal dominant | Autosomal dominant | Autosomal dominant | Autosomal recessive | Autosomal dominant
Created: 20 Feb 2020, 5:22 p.m. | Last Modified: 20 Feb 2020, 5:22 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Laing distal myopathy, 160500
  • Myopathy, myosin storage, autosomal dominant, 608358
  • Myopathy, myosin storage, autosomal recessive, 255160
  • Cardiomyopathy, hypertrophic, 1, 192600
  • Left ventricular noncompaction 5, 613426
  • Scapuloperoneal syndrome, myopathic type, 181430
  • Cardiomyopathy, dilated, 1S, 613426
OMIM
160760
Clinvar variants
Variants in MYH7
Penetrance
None
Publications
Panels with this gene