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Severe Paediatric Disorders

Gene: MYH2

Green List (high evidence)

MYH2 (myosin heavy chain 2)
EnsemblGeneIds (GRCh38): ENSG00000125414
EnsemblGeneIds (GRCh37): ENSG00000125414
OMIM: 160740, Gene2Phenotype
MYH2 is in 4 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: MYH2; Recommended initial gene rating: Green List (high evidence); Phenotypes: Proximal myopathy and ophthalmoplegia, 605637 (3); Mode of inheritance: 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
  • Proximal myopathy and ophthalmoplegia, OMIM:605637
  • Myopathy, proximal, and ophthalmoplegia, MONDO:0011577
OMIM
160740
Clinvar variants
Variants in MYH2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Jan 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: MYH2 were changed from Proximal myopathy and ophthalmoplegia, 605637 to Proximal myopathy and ophthalmoplegia, OMIM:605637; Myopathy, proximal, and ophthalmoplegia, MONDO:0011577

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics En