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Arthrogryposis

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

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

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

History Filter Activity

16 Oct 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 Oct 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 Oct 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: MYH2 were set to

16 Oct 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: MYH2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MYH2 was added gene: MYH2 was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: MYH2 was set to Unknown