Rhabdomyolysis and metabolic muscle disorders
Gene: MYH1EnsemblGeneIds (GRCh38): ENSG00000109061
EnsemblGeneIds (GRCh37): ENSG00000109061
OMIM: 160730, Gene2Phenotype
MYH1 is in 2 panels
2 reviews
Achchuthan Shanmugasundram (Genomics England Curator)
There is one patient identified with homozygous MYH1 variant (c.1295A>C; p.Lys432Thr) and a horse model with the same phenotype. Hence, this gene can be rated amber for now.Created: 30 Aug 2023, 5:26 p.m. | Last Modified: 30 Aug 2023, 5:28 p.m.
Panel Version: 3.31
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
rhabdomyolysis, MONDO:0005290
Publications
Dmitrijs Rots (Children's Clinical University Hospital)
One patient reported with some statistical evidence and known horse "model" with same phenotype.
Sources: LiteratureCreated: 16 Oct 2021, 1:36 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Rhabdomyolysis
Publications
- PMID: 33755318
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
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Phenotypes
-
- rhabdomyolysis, MONDO:0005290
- OMIM
- 160730
- Clinvar variants
- Variants in MYH1
- Penetrance
- unknown
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Achchuthan Shanmugasundram (Genomics England Curator)Gene: myh1 has been classified as Amber List (Moderate Evidence).
Set mode of pathogenicity
Achchuthan Shanmugasundram (Genomics England Curator)Mode of pathogenicity for gene: MYH1 was changed from None to None
Set mode of pathogenicity
Achchuthan Shanmugasundram (Genomics England Curator)Mode of pathogenicity for gene: MYH1 was changed from None to None
Set mode of pathogenicity
Achchuthan Shanmugasundram (Genomics England Curator)Mode of pathogenicity for gene: MYH1 was changed from Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments to None
Set mode of inheritance
Achchuthan Shanmugasundram (Genomics England Curator)Mode of inheritance for gene: MYH1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Set publications
Achchuthan Shanmugasundram (Genomics England Curator)Publications for gene: MYH1 were set to PMID: 33755318
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: MYH1 were changed from rhabdomyolysis, MONDO:0005290 to rhabdomyolysis, MONDO:0005290
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: MYH1 were changed from Rhabdomyolysis to rhabdomyolysis, MONDO:0005290
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance, Set mode of pathogenicity
Dmitrijs Rots (Children's Clinical University Hospital)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