Rhabdomyolysis and metabolic muscle disorders
Gene: MYH1
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
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
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Gene: myh1 has been classified as Amber List (Moderate Evidence).
Mode of pathogenicity for gene: MYH1 was changed from None to None
Mode of pathogenicity for gene: MYH1 was changed from None to None
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
Mode of inheritance for gene: MYH1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MYH1 were set to PMID: 33755318
Phenotypes for gene: MYH1 were changed from rhabdomyolysis, MONDO:0005290 to rhabdomyolysis, MONDO:0005290
Phenotypes for gene: MYH1 were changed from Rhabdomyolysis to rhabdomyolysis, MONDO:0005290
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