| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Monogenic Diabetes v1.24 | MT-TG | chirag patel Marked gene: MT-TG as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic Diabetes v1.24 | MT-TG | chirag patel Gene: mt-tg has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic Diabetes v1.24 | MT-TG | chirag patel Classified gene: MT-TG as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic Diabetes v1.24 | MT-TG | chirag patel Gene: mt-tg has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic Diabetes v1.23 | MT-TG |
chirag patel gene: MT-TG was added gene: MT-TG was added to Monogenic Diabetes. Sources: Literature Mode of inheritance for gene gene: MT-TG was set to MITOCHONDRIAL Publications for gene: MT-TG were set to 27519417 Phenotypes for gene: MT-TG were set to Maternally-inherited diabetes and deafness, MONDO:0010785 Review for gene: MT-TG was set to GREEN Added comment: PMID 27519417 reports 12 individuals from 3 Han Chinese families with homoplasmic mtDNA m.14692A>G (MT‑TG) variant presenting with maternally inherited diabetes and deafness (MIDD). Affected persons showed diabetes mellitus, sensorineural hearing loss and variable penetrance. Patient‑derived lymphoblastoid cell lines show loss of ψ55 modification, reduced tRNA Glu steady‑state level, impaired mitochondrial translation, decreased respiratory complex activity, lowered OCR and ATP production, reduced membrane potential and increased ROS. Sources: Literature |
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