| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Congenital Myasthenia v2.2 | TEFM | Bryony Thompson Marked gene: TEFM as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Myasthenia v2.2 | TEFM | Bryony Thompson Gene: tefm has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Myasthenia v2.2 | TEFM | Bryony Thompson Classified gene: TEFM as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Myasthenia v2.2 | TEFM | Bryony Thompson Gene: tefm has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Myasthenia v2.1 | TEFM |
Bryony Thompson gene: TEFM was added gene: TEFM was added to Congenital Myasthenia. Sources: Literature Mode of inheritance for gene: TEFM was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TEFM were set to 37721175; 36823193 Phenotypes for gene: TEFM were set to combined oxidative phosphorylation deficiency 58, MONDO:0957537 Review for gene: TEFM was set to GREEN Added comment: PMID 36823193 reports seven individuals from five unrelated families with biallelic TEFM loss‑of‑function variants and a congenital myasthenic‑syndrome‑like mitochondrial disease; PMID 37721175 likely reports the same two affected siblings from an Indian family homozygous for the same p.Pro157Ala variant. Across five families, the phenotype includes fatigable muscle weakness, ptosis, ophthalmoparesis, limb‑girdle weakness and variable neurological features such as epilepsy and ataxia. Functional studies demonstrate reduced TEFM protein, impaired mitochondrial transcription, decreased complex I activity and neuromuscular junction defects in zebrafish, supporting a loss‑of‑function mechanism. Sources: Literature |
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