Muscular dystrophy and myopathy_Paediatric

Gene: MYH7

Green List (high evidence)

MYH7 (myosin heavy chain 7)
EnsemblGeneIds (GRCh38): ENSG00000092054
EnsemblGeneIds (GRCh37): ENSG00000092054
OMIM: 160760, Gene2Phenotype
MYH7 is in 14 panels

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Congenital myopathy reported in >4 cases/families (e.g. core myopathy). The mechanism for disease is dominant negative.
Sources: Literature
Created: 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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Variable age of onset of symptoms, including in childhood.
Sources: Expert list
Created: 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

History Filter Activity

1 Aug 2024, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: myh7 has been classified as Green List (High Evidence).

1 Aug 2024, Gel status: 3

Set mode of pathogenicity

Bryony Thompson (Royal Melbourne Hospital)

Mode of pathogenicity for gene: MYH7 was changed from None to None

1 Aug 2024, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: myh7 has been classified as Green List (High Evidence).

1 Aug 2024, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

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