| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mendeliome v1.3736 | MT-ATP8 | Zornitza Stark Classified gene: MT-ATP8 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3736 | MT-ATP8 | Zornitza Stark Gene: mt-atp8 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3735 | MT-ATP8 | Zornitza Stark edited their review of gene: MT-ATP8: Changed publications: 40112238, 24153443, 20207608, 32858252, 33340416, 32858252, 19759059, 22919063 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3735 | MT-ATP8 | Zornitza Stark edited their review of gene: MT-ATP8: Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3735 | MT-ATP8 | Zornitza Stark Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3735 | MT-ATP8 | Zornitza Stark commented on gene: MT-ATP8: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3159 | MT-ATP8 | Zornitza Stark Marked gene: MT-ATP8 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3159 | MT-ATP8 | Zornitza Stark Gene: mt-atp8 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3159 | MT-ATP8 | Zornitza Stark Classified gene: MT-ATP8 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3159 | MT-ATP8 | Zornitza Stark Gene: mt-atp8 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3158 | MT-ATP8 |
Zornitza Stark gene: MT-ATP8 was added gene: MT-ATP8 was added to Mendeliome. Sources: Expert list mtDNA tags were added to gene: MT-ATP8. Mode of inheritance for gene gene: MT-ATP8 was set to MITOCHONDRIAL Publications for gene: MT-ATP8 were set to 40112238 Phenotypes for gene: MT-ATP8 were set to Mitochondrial complex V (ATP synthase) deficiency, MONDO:0014471, MT-ATP8-related Review for gene: MT-ATP8 was set to GREEN Added comment: Multiple individuals reported with wide spectrum of clinical features including ataxia, motor and language developmental delay, deafness, retinitis pigmentosa, and Leigh pattern in brain MRI. Sources: Expert list |
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