Rhabdomyolysis and Metabolic Myopathy
Gene: MYH1EnsemblGeneIds (GRCh38): ENSG00000109061
EnsemblGeneIds (GRCh37): ENSG00000109061
OMIM: 160730, Gene2Phenotype
MYH1 is in 2 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
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: LiteratureCreated: 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)
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: LiteratureCreated: 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
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: myh1 has been classified as Red List (Low Evidence).
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