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| Cardiomyopathy_Paediatric v1.32 | MTO1 | Lucy Spencer Classified gene: MTO1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.32 | MTO1 | Lucy Spencer Gene: mto1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.31 | MTO1 |
Lucy Spencer gene: MTO1 was added gene: MTO1 was added to Cardiomyopathy_Paediatric. Sources: Literature Mode of inheritance for gene: MTO1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MTO1 were set to 29331171 Phenotypes for gene: MTO1 were set to Combined oxidative phosphorylation deficiency 10 MIM#614702 Review for gene: MTO1 was set to GREEN Added comment: PMID 29331171 describe HCM as the most common clinical feature at initial presentation in their cohort of 34 individuals with MTO1 deficiency. 15 patients had HCM at initial presentation, and over time it developed into a total of 27/34 patients with HCM. Sources: Literature |
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