Rhabdomyolysis and metabolic muscle disorders

Gene: MYH1

No list

MYH1 (myosin heavy chain 1)
EnsemblGeneIds (GRCh38): ENSG00000109061
EnsemblGeneIds (GRCh37): ENSG00000109061
OMIM: 160730, Gene2Phenotype
MYH1 is in 1 panel

1 review

Dmitrijs Rots (RadboudUMC)

I don't know

One patient reported with some statistical evidence and known horse "model" with same phenotype.
Sources: Literature
Created: 16 Oct 2021, 1:36 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Rhabdomyolysis

Publications

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
Phenotypes
  • Rhabdomyolysis
OMIM
160730
Clinvar variants
Variants in MYH1
Penetrance
unknown
Publications
Mode of Pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Panels with this gene

History Filter Activity

16 Oct 2021, Gel status: 0

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

Dmitrijs Rots (RadboudUMC)

gene: MYH1 was added gene: MYH1 was added to Rhabdomyolysis and metabolic muscle disorders. Sources: Literature Mode of inheritance for gene: MYH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MYH1 were set to PMID: 33755318 Phenotypes for gene: MYH1 were set to Rhabdomyolysis Penetrance for gene: MYH1 were set to unknown Mode of pathogenicity for gene: MYH1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: MYH1 was set to AMBER