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  3. MYH2
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Muscular dystrophy and myopathy_Paediatric

Gene: MYH2

Green List (high evidence)
MYH2 (myosin heavy chain 2)
EnsemblGeneIds (GRCh38): ENSG00000125414
EnsemblGeneIds (GRCh37): ENSG00000125414
OMIM: 160740, Gene2Phenotype
MYH2 is in 8 panels

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

Comment on list classification: Definitive gene-disease validity by the ClinGen Congenital Myopathy VCEP - reviewed 09/03/2020
Created: 5 Jun 2023, 3:49 a.m. | Last Modified: 5 Jun 2023, 3:49 a.m.
Panel Version: 0.185
Created: 5 Jun 2023, 3:49 a.m.
Last Modified: 5 Jun 2023, 3:49 a.m.
Panel version: 0.185

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Individuals with dominantly inherited MYH2 missense variants present with ophthalmoplegia and progressive proximal limb weakness. Muscle biopsy reveals rimmed vacuoles and inclusions, prompting this entity to initially be described as hereditary inclusion body myopathy 3. In contrast, individuals with recessive MYH2 variants have early onset, non-progressive, diffuse weakness and ophthalmoplegia. Muscle biopsy reveals near or complete absence of type 2A fibers with no vacuole or inclusion pathology.

Bi-allelic variants: more than 10 families reported.

Mono-allelic variants: two missense variants reported.
Created: 16 Oct 2020, 2:42 a.m. | Last Modified: 16 Oct 2020, 2:42 a.m.
Panel Version: 0.281

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Proximal myopathy and ophthalmoplegia, MIM# 605637

Publications

Created: 16 Oct 2020, 2:42 a.m.
Last Modified: 16 Oct 2020, 2:42 a.m.
Panel version: Imported from Myopathy - paediatric onset panel version 0.281

Details

Mode of Inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Expert Review Green
Phenotypes
  • Myopathy, proximal, and ophthalmoplegia MONDO:0011577
OMIM
160740
Clinvar variants
Variants in MYH2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Jun 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: myh2 has been classified as Green List (High Evidence).

5 Jun 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: myh2 has been classified as Green List (High Evidence).

5 Jun 2023, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: MYH2 was added gene: MYH2 was added to Muscular dystrophy_Paediatric. Sources: Expert list Mode of inheritance for gene: MYH2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: MYH2 were set to 20418530; 15548556; 24193343; 11114175; 23489661; 32578970; 29934118; 28729039; 27490141; 27177998 Phenotypes for gene: MYH2 were set to Myopathy, proximal, and ophthalmoplegia MONDO:0011577 gene: MYH2 was marked as current diagnostic