Congenital ophthalmoplegia
Gene: MYH2
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
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: LiteratureCreated: 16 Nov 2020, 8:33 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications
Gene: myh2 has been classified as Green List (High Evidence).
Phenotypes for gene: MYH2 were changed from to Proximal myopathy and ophthalmoplegia, MIM# 605637
Gene: myh2 has been classified as Green List (High Evidence).
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