Muscular dystrophy and myopathy_Paediatric
Gene: MYH2Comment on list classification: Definitive gene-disease validity by the ClinGen Congenital Myopathy VCEP - reviewed 09/03/2020Created: 5 Jun 2023, 3:49 a.m. | Last Modified: 5 Jun 2023, 3:49 a.m.
Panel Version: 0.185
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
Gene: myh2 has been classified as Green List (High Evidence).
Gene: myh2 has been classified as Green List (High Evidence).
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