Activity
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12 actions
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| Rhabdomyolysis and metabolic muscle disorders v3.35 | MYH1 | Achchuthan Shanmugasundram Classified gene: MYH1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and metabolic muscle disorders v3.35 | MYH1 | Achchuthan Shanmugasundram Gene: myh1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and metabolic muscle disorders v3.34 | MYH1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: MYH1 was changed from None to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and metabolic muscle disorders v3.33 | MYH1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: MYH1 was changed from None to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and metabolic muscle disorders v3.33 | MYH1 | Achchuthan Shanmugasundram 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and metabolic muscle disorders v3.32 | MYH1 | Achchuthan Shanmugasundram Mode of inheritance for gene: MYH1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and metabolic muscle disorders v3.31 | MYH1 | Achchuthan Shanmugasundram changed review comment from: As reviewed by Dmitrijs Rots, there is one patient identified with homozygous MYH1 variant and a horse model with the same phenotype. Hence, this gene can be rated amber for now.; to: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and metabolic muscle disorders v3.31 | MYH1 | Achchuthan Shanmugasundram Publications for gene: MYH1 were set to PMID: 33755318 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and metabolic muscle disorders v3.30 | MYH1 | Achchuthan Shanmugasundram Phenotypes for gene: MYH1 were changed from rhabdomyolysis, MONDO:0005290 to rhabdomyolysis, MONDO:0005290 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and metabolic muscle disorders v3.29 | MYH1 | Achchuthan Shanmugasundram Phenotypes for gene: MYH1 were changed from Rhabdomyolysis to rhabdomyolysis, MONDO:0005290 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and metabolic muscle disorders v3.28 | MYH1 | Achchuthan Shanmugasundram reviewed gene: MYH1: Rating: AMBER; Mode of pathogenicity: None; Publications: 33755318; Phenotypes: rhabdomyolysis, MONDO:0005290; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and metabolic muscle disorders v1.57 | MYH1 |
Dmitrijs Rots 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 Added comment: One patient reported with some statistical evidence and known horse "model" with same phenotype. Sources: Literature |
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