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| Mitochondrial disease v0.138 | MSTO1 | Zornitza Stark Marked gene: MSTO1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.138 | MSTO1 | Zornitza Stark Gene: msto1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.138 | MSTO1 | Zornitza Stark Classified gene: MSTO1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.138 | MSTO1 | Zornitza Stark Gene: msto1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.137 | MSTO1 |
Zornitza Stark gene: MSTO1 was added gene: MSTO1 was added to Mitochondrial disease. Sources: Expert list 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; 31463572; 31130378; 30684668; 29339779 Phenotypes for gene: MSTO1 were set to Myopathy, mitochondrial, and ataxia, MIM# 617675 Review for gene: MSTO1 was set to GREEN gene: MSTO1 was marked as current diagnostic Added comment: Impaired mitochondrial fusion disorder. Multiple families reported with bi-allelic variants and childhood-onset muscular dystrophy, corticospinal tract dysfunction and early-onset non-progressive cerebellar atrophy. One family reported with heterozygous variant in this gene, gene-disease association for mono allelic variants not well established. Sources: Expert list |
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