| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Cardiomyopathy_Paediatric v1.73 | MT-ND6 | Lucy Spencer Classified gene: MT-ND6 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.73 | MT-ND6 | Lucy Spencer Gene: mt-nd6 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.72 | MT-ND6 |
Lucy Spencer gene: MT-ND6 was added gene: MT-ND6 was added to Cardiomyopathy_Paediatric. Sources: Literature Mode of inheritance for gene gene: MT-ND6 was set to MITOCHONDRIAL Publications for gene: MT-ND6 were set to 34933128 Phenotypes for gene: MT-ND6 were set to Mitochondrial disease (MONDO:0044970), MT-ND6-related Review for gene: MT-ND6 was set to AMBER Added comment: PMID 34933128 reports 4 new patients and reviews the literature for individuals with Leigh syndrome and m.14453G>A in MT-ND6. 2 of the individuals were noted to have childhood/infantile onset HCM. Sources: Literature |
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