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Mitochondrial disorders v4.99 MT-ATP6 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-ATP6.
Mitochondrial disorders v4.93 MT-ATP6 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ATP6.
Mitochondrial disorders v2.103 MT-ATP6 Eleanor Williams Tag gene-checked tag was added to gene: MT-ATP6.
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."