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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

History Filter Activity

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene MYH7 were updated from to 30847515

20 Feb 2020, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene MYH7 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added 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 for gene: MYH7

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added 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 for gene: MYH7

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added 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 for gene: MYH7

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Cardiomyopathy, dilated, 1S, 613426; Cardiomyopathy, hypertrophic, 1, 192600; Laing distal myopathy, 160500; Myopathy, myosin storage, autosomal recessive, 255160; Myopathy, myosin storage, autosomal dominant, 608358; Scapuloperoneal syndrome, myopathic type, 181430; Left ventricular noncompaction 5, 613426 for gene: MYH7

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to MYH7.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to MYH7. Rating Changed from Red List (low evidence) to Green List (high evidence)

14 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: MYH7 was added gene: MYH7 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: MYH7 was set to