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| Mitochondrial disease v0.1102 | MT-ATP8 | Zornitza Stark Phenotypes for gene: MT-ATP8 were changed from Mitochondrial cardiomyopathy complex V (ATP synthase) deficiency to Mitochondrial disease MONDO:0044970, MT-ATP8 related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.1101 | MT-ATP8 | Zornitza Stark edited their review of gene: MT-ATP8: Changed phenotypes: Mitochondrial disease MONDO:0044970, MT-ATP8 related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.1101 | MT-ATP8 | Zornitza Stark Publications for gene: MT-ATP8 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.1100 | MT-ATP8 | Zornitza Stark Classified gene: MT-ATP8 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.1100 | MT-ATP8 | Zornitza Stark Gene: mt-atp8 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.1099 | MT-ATP8 | Zornitza Stark Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.1099 | MT-ATP8 | Zornitza Stark edited their review of gene: MT-ATP8: Added comment: LIMITED by ClinGen. Three variants (m.8403T>C, m.8411A>G, m.8424T>C) have been reported in three individuals. Age of onset varied from birth to the 30s. Clinical features included muscle weakness, wasting, and cramping; dysarthria, headache, periodic paralysis, seizures, mood disorder, neuropathy, pancreatitis, diarrhoea, and weight loss. Brain imaging revealed cerebellar atrophy; lactate was elevated. The gene-disease relationship is also supported by a biochemical function (complex V subunit) shared with other genes associated with primary mitochondrial disease, functional alteration in non-patient cells, and model organisms.; Changed rating: AMBER; Changed publications: 24153443, 20207608, 32858252, 33340416, 32858252, 19759059, 22919063 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.430 | MT-ATP8 | Zornitza Stark Tag mtDNA tag was added to gene: MT-ATP8. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.365 | MT-ATP8 | Zornitza Stark Marked gene: MT-ATP8 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.365 | MT-ATP8 | Zornitza Stark Gene: mt-atp8 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.365 | MT-ATP8 | Zornitza Stark Classified gene: MT-ATP8 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.365 | MT-ATP8 | Zornitza Stark Gene: mt-atp8 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.364 | MT-ATP8 |
Zornitza Stark gene: MT-ATP8 was added gene: MT-ATP8 was added to Mitochondrial disease. Sources: Expert list Mode of inheritance for gene gene: MT-ATP8 was set to MITOCHONDRIAL Phenotypes for gene: MT-ATP8 were set to Mitochondrial cardiomyopathy complex V (ATP synthase) deficiency Review for gene: MT-ATP8 was set to GREEN Added comment: Sources: Expert list |
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