| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Cardiomyopathy_Paediatric v1.100 | MT-ATP6 | Zornitza Stark Marked gene: MT-ATP6 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.100 | MT-ATP6 | Zornitza Stark Gene: mt-atp6 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.100 | MT-ATP6 | Zornitza Stark Classified gene: MT-ATP6 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.100 | MT-ATP6 | Zornitza Stark Gene: mt-atp6 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.99 | MT-ATP6 |
Zornitza Stark gene: MT-ATP6 was added gene: MT-ATP6 was added to Cardiomyopathy_Paediatric. Sources: Literature Mode of inheritance for gene gene: MT-ATP6 was set to MITOCHONDRIAL Publications for gene: MT-ATP6 were set to 40367733; 40112238; 39119452; 29101127; 27453250 Phenotypes for gene: MT-ATP6 were set to Mitochondrial complex V (ATP synthase) deficiency, MONDO:0014471, MT-ATP6-related Review for gene: MT-ATP6 was set to GREEN Added comment: PMIDs 40367733, 29101127, 39119452, 40112238 and 27453250 collectively report 43 families with MT‑ATP6 variants causing mitochondrial disease phenotypes that include cardiomyopathy. 19 families present with Leigh syndrome and hypertrophic cardiomyopathy and 23 families with mitochondrial proton‑transporting ATP synthase complex deficiency and paediatric cardiomyopathy. Sources: Literature |
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