Rhabdomyolysis and Metabolic Myopathy

Gene: MYH3

Red List (low evidence)

MYH3 (myosin heavy chain 3)
EnsemblGeneIds (GRCh38): ENSG00000109063
EnsemblGeneIds (GRCh37): ENSG00000109063
OMIM: 160720, Gene2Phenotype
MYH3 is in 8 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Myosins constitute a large superfamily proteins, which convert chemical energy, through ATP hydrolysis, to mechanical force for diverse cellular movements, such as cell migration and muscle contraction. The class Ⅱ myosin forms the filaments in muscle and non-muscle cells as a hexameric protein complex, consisting of two myosin heavy chain (MyHC) subunits and two pairs of non-identical light chain subunits. There are several MyHC isoforms encoded by different genes of the MYH family in humans.

Variants in MYH3 are primarily associated with distal arthrogryposis syndromes secondary to an underlying myopathy. Multiple families reported.
Created: 14 May 2022, 3:20 a.m. | Last Modified: 14 May 2022, 3:20 a.m.
Panel Version: 0.14272

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Arthrogryposis, distal, type 2A (Freeman-Sheldon) 193700; Arthrogryposis, distal, type 2B3 (Sheldon-Hall) 618436; Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A 178110; Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B 618469

Publications

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

Single case with rhabdomyolysis reported.
Sources: Expert list
Created: 29 May 2020, 1:38 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
paresthesia; rhabdomyolysis

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review Red
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • paresthesia
  • rhabdomyolysis
OMIM
160720
Clinvar variants
Variants in MYH3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Oct 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: myh3 has been classified as Red List (Low Evidence).

29 May 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: MYH3 was added gene: MYH3 was added to Rhabdomyolysis RMH. Sources: Expert list Mode of inheritance for gene: MYH3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MYH3 were set to 28779239 Phenotypes for gene: MYH3 were set to paresthesia; rhabdomyolysis Review for gene: MYH3 was set to RED