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| Muscular dystrophy and myopathy_Paediatric v0.42 | MSTO1 | Zornitza Stark Marked gene: MSTO1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.42 | MSTO1 | Zornitza Stark Added comment: Comment when marking as ready: Green for bi-allelic disease. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.42 | MSTO1 | Zornitza Stark Gene: msto1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.42 | MSTO1 | Zornitza Stark Classified gene: MSTO1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.42 | MSTO1 | Zornitza Stark Gene: msto1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.27 | MSTO1 |
Crystle Lee gene: MSTO1 was added gene: MSTO1 was added to Muscular dystrophy. Sources: Expert Review Mode of inheritance for gene: MSTO1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: MSTO1 were set to 28554942; 28544275; 31604776 Phenotypes for gene: MSTO1 were set to Myopathy, mitochondrial, and ataxia (MIM#617675) Review for gene: MSTO1 was set to GREEN Added comment: >5 families reported. Early onset, elevated CK levels and myopathic patterns on EMG reported in almost all patients. Primarily a recessive disorder. Limited evidence supporting AD inheritance, which was reported in one family where CK levels were normal and age of onset was later. PMID: 31604776: One patient reported. Provides review of previously published MSTO1 families. Sources: Expert Review |
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