| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Mitochondrial disease v0.879 | TEFM | Zornitza Stark Phenotypes for gene: TEFM were changed from Combined oxidative phosphorylation deficiency 58, MIM# 620451 to Combined oxidative phosphorylation deficiency 58, MIM# 620451 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.878 | TEFM | Zornitza Stark Phenotypes for gene: TEFM were changed from Combined oxidative phosphorylation deficiency 58, MIM# 620451 to Combined oxidative phosphorylation deficiency 58, MIM# 620451 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.878 | TEFM | Zornitza Stark Phenotypes for gene: TEFM were changed from Mitochondrial disease (MONDO#0044970), TEFM-related to Combined oxidative phosphorylation deficiency 58, MIM# 620451 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.857 | TEFM | Zornitza Stark Marked gene: TEFM as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.857 | TEFM | Zornitza Stark Gene: tefm has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.857 | TEFM | Zornitza Stark Classified gene: TEFM as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.857 | TEFM | Zornitza Stark Gene: tefm has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.856 | TEFM |
Ee Ming Wong gene: TEFM was added gene: TEFM was added to Mitochondrial disease. Sources: Literature Mode of inheritance for gene: TEFM was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TEFM were set to 36823193 Phenotypes for gene: TEFM were set to Mitochondrial disease (MONDO#0044970), TEFM-related Review for gene: TEFM was set to GREEN gene: TEFM was marked as current diagnostic Added comment: - Seven TEFM variants (4 missense, 2 fs, 1 in-frame del) in seven individuals across five unrelated families - Muscle and primary fibroblast from the affected individuals have reduced levels of promoter distal mitochondrial RNA transcripts - TEFM knockdown in zebrafish embryos resulted in neuromuscular junction abnormalities and abnormal mitochondrial function Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||