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  3. MYH2
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Congenital ophthalmoplegia

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Bi-allelic variants: Green.
Mono-allelic variants: limited evidence.
Created: 16 Nov 2020, 7:22 p.m. | Last Modified: 16 Nov 2020, 7:22 p.m.
Panel Version: 0.62

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Proximal myopathy and ophthalmoplegia, MIM# 605637

Created: 16 Nov 2020, 7:22 p.m.
Last Modified: 16 Nov 2020, 7:22 p.m.
Panel version: 0.62

Shannon LeBlanc (Victorian Clinical Genetics Services)

childhood consent ophthalmoplegia and progressive proximal limb weakness. Either slowly progressive or non-progressive.

> 10 families reported with balletic variants
monoallelic variants: two missense variants reported
Sources: Literature
Created: 16 Nov 2020, 8:33 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Publications

Created: 16 Nov 2020, 8:33 a.m.

Panel version: 0.59

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Proximal myopathy and ophthalmoplegia, MIM# 605637
OMIM
160740
Clinvar variants
Variants in MYH2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Nov 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

16 Nov 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MYH2 were changed from to Proximal myopathy and ophthalmoplegia, MIM# 605637

16 Nov 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

16 Nov 2020, Gel status: 0

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

Shannon LeBlanc (Victorian Clinical Genetics Services)

gene: MYH2 was added gene: MYH2 was added to Congenital ophthalmoplegia. Sources: Literature Mode of inheritance for gene: MYH2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: MYH2 were set to PMID 24193343; 32578970; 11114175; 23489661