Arthrogryposis
Gene: MYH2

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

More than 10 families reported with bi-allelic MYH2 variants and 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. Congenital contractures reported.
Created: 16 Oct 2020, 2:48 a.m. | Last Modified: 16 Oct 2020, 2:48 a.m.

Panel Version: 0.225

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Proximal myopathy and ophthalmoplegia, MIM# 605637

Publications

Created: 16 Oct 2020, 2:48 a.m.
Last Modified: 16 Oct 2020, 2:48 a.m.
Panel version: 0.225

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Proximal myopathy and ophthalmoplegia, MIM# 605637

OMIM

160740

Clinvar variants

Variants in MYH2

Penetrance

None

Publications

Panels with this gene