Activity
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| Mitochondrial disorders v9.38 | MT-ATP8 |
Ida Ertmanska changed review comment from: As reviewed by Zornitza Stark, there are 3 individuals reported with primary mitochondrial disease and variants in MT-ATP8. Hence, this gene should remain Green for Mitochondrial disorders.; to: As reviewed by Zornitza Stark, there are 3 individuals reported with primary mitochondrial disease and variants in MT-ATP8. Hence, this gene should remain Green for Mitochondrial disorders. This gene is not yet associated with a phenotype in OMIM (accessed 19th Dec 2025). |
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| Mitochondrial disorders v9.38 | MT-ATP8 | Ida Ertmanska Phenotypes for gene: MT-ATP8 were changed from CARDIOMYOPATHY, INFANTILE HYPERTROPHIC; CARDIOMYOPATHY, APICAL HYPERTROPHIC, AND NEUROPATHY; BRAIN PSEUDOATROPHY, REVERSIBLE, VALPROATE-INDUCED, SUSCEPTIBILITY TO to Mitochondrial cardiomyopathy complex V (ATP synthase) deficiency | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v9.37 | MT-ATP8 | Ida Ertmanska Publications for gene: MT-ATP8 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v9.36 | MT-ATP8 | Ida Ertmanska reviewed gene: MT-ATP8: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v9.36 | MT-ATP8 | Zornitza Stark reviewed gene: MT-ATP8: Rating: AMBER; Mode of pathogenicity: None; Publications: 24153443, 20207608, 32858252, 33340416, 32858252, 19759059, 22919063; Phenotypes: Mitochondrial cardiomyopathy complex V (ATP synthase) deficiency; Mode of inheritance: MITOCHONDRIAL | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v4.99 | MT-ATP8 | Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-ATP8. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v4.93 | MT-ATP8 | Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ATP8. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v2.103 | MT-ATP8 | Eleanor Williams Tag gene-checked tag was added to gene: MT-ATP8. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v2.8 | MT-ATP8 | Ivone Leong commented on gene: MT-ATP8 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.69 | MT-ATP8 | Ellen McDonagh commented on gene: MT-ATP8: Comments from Dr Atsuko Okazaki (Division of Genomic Medicine Research, Medical Genomics Center, National Center for Global Health and Medicine, Tokyo, Japan): "Only m.8528T>C (to be exact, it is an overlapping region of MT-ATP6/ATP8) can be reported as a confirmed mutation for infantile hypertrophic cardiomyopathy. In comparison, m.8527A>G is a polymorphism for MT-ATP8 and possibly disease-associated for MT-ATP6 (amber/red) although both m.8527A>G and m.8528T>C are located in MT-ATP8 gene." | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||