Acute rhabdomyolysis
Gene: MYH1
MYH1 (myosin heavy chain 1)
EnsemblGeneIds (GRCh38): ENSG00000109061
EnsemblGeneIds (GRCh37): ENSG00000109061
OMIM: 160730, Gene2Phenotype
MYH1 is in 2 panels
EnsemblGeneIds (GRCh38): ENSG00000109061
EnsemblGeneIds (GRCh37): ENSG00000109061
OMIM: 160730, Gene2Phenotype
MYH1 is in 2 panels
1 review
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.
Sources: LiteratureCreated: 30 Aug 2023, 5:33 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
rhabdomyolysis, MONDO:0005290
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Literature
- Phenotypes
-
- rhabdomyolysis, MONDO:0005290
- OMIM
- 160730
- Clinvar variants
- Variants in MYH1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
30 Aug 2023, Gel status: 2
Entity classified by Genomics England curator
Achchuthan Shanmugasundram (Genomics England Curator)Gene: myh1 has been classified as Amber List (Moderate Evidence).
30 Aug 2023, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)gene: MYH1 was added gene: MYH1 was added to Acute 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 AMBER