Muscular dystrophy and myopathy_Paediatric
Gene: MYH7
Congenital myopathy reported in >4 cases/families (e.g. core myopathy). The mechanism for disease is dominant negative.
Sources: LiteratureCreated: 1 Aug 2024, 12:28 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
MYH7-related skeletal myopathy MONDO:0008050
Publications
Mode of pathogenicity
Other
Variants in this GENE are reported as part of current diagnostic practice
Variable age of onset of symptoms, including in childhood.
Sources: Expert listCreated: 3 Jun 2020, 8:41 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Laing distal myopathy, MIM# 160500; Myopathy, myosin storage, autosomal dominant, MIM# 608358; Myopathy, myosin storage, autosomal recessive, MIM# 255160
Publications
Gene: myh7 has been classified as Green List (High Evidence).
Mode of pathogenicity for gene: MYH7 was changed from None to None
Gene: myh7 has been classified as Green List (High Evidence).
gene: MYH7 was added gene: MYH7 was added to Muscular dystrophy and myopathy_Paediatric. Sources: Literature Mode of inheritance for gene: MYH7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MYH7 were set to 38982518; 15322983 Phenotypes for gene: MYH7 were set to MYH7-related skeletal myopathy MONDO:0008050 Review for gene: MYH7 was set to GREEN gene: MYH7 was marked as current diagnostic