Rhabdomyolysis and Metabolic Myopathy

Gene: MYH1

Red List (low evidence)

MYH1 (myosin heavy chain 1)
EnsemblGeneIds (GRCh38): ENSG00000109061
EnsemblGeneIds (GRCh37): ENSG00000109061
OMIM: 160730, Gene2Phenotype
MYH1 is in 2 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

18 yr old male from a consaguineous family. WES identified homozygous c.1295A>C:p.K432T variant. Only 1 het in gnomad v2 and v3. No functional data.
Sources: Literature
Created: 11 Jan 2022, 1:22 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
rhabdomyolysis, MONDO:0005290

Publications

Ain Roesley (Victorian Clinical Genetics Services)

Red List (low evidence)

18 yr old male from a consaguineous family.
WES was performed and a homozygous c.1295A>C:p.K432T was found. Only 1 het in gnomad v2 and v3.
no protein functional work was done
Sources: Literature
Created: 7 Jan 2022, 3:11 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
recurrent rhabdomyolysis

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
  • Literature
Phenotypes
  • rhabdomyolysis, MONDO:0005290
OMIM
160730
Clinvar variants
Variants in MYH1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Jan 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: myh1 has been classified as Red List (Low Evidence).

11 Jan 2022, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MYH1 was added gene: MYH1 was added to Rhabdomyolysis. Sources: Literature Mode of inheritance for gene: MYH1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MYH1 were set to 33755318 Phenotypes for gene: MYH1 were set to rhabdomyolysis, MONDO:0005290 Review for gene: MYH1 was set to RED