| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mendeliome v1.3229 | MT-ATP6 | Zornitza Stark Publications for gene: MT-ATP6 were set to 40112238 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3228 | MT-ATP6 | Zornitza Stark edited their review of gene: MT-ATP6: Added comment: DEFINITIVE by ClinGen.; Changed publications: 40112238, 1550128, 8554662, 23206802, 1456751, 9270604, 9501263, 10604142, 17352390, 11245730, 16217706, 11731285, 27812026, 25037980, 19747204, 2137962 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3157 | MT-ATP6 | Zornitza Stark Marked gene: MT-ATP6 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3157 | MT-ATP6 | Zornitza Stark Gene: mt-atp6 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3157 | MT-ATP6 | Zornitza Stark Classified gene: MT-ATP6 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3157 | MT-ATP6 | Zornitza Stark Gene: mt-atp6 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3156 | MT-ATP6 |
Zornitza Stark gene: MT-ATP6 was added gene: MT-ATP6 was added to Mendeliome. Sources: Expert list mtDNA tags were added to gene: MT-ATP6. Mode of inheritance for gene gene: MT-ATP6 was set to MITOCHONDRIAL Publications for gene: MT-ATP6 were set to 40112238 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: 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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