| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mitochondrial disease v0.1295 | SMDT1 | Zornitza Stark Marked gene: SMDT1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.1295 | SMDT1 | Zornitza Stark Gene: smdt1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.1295 | SMDT1 | Zornitza Stark Classified gene: SMDT1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.1295 | SMDT1 | Zornitza Stark Gene: smdt1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.1294 | SMDT1 |
Zornitza Stark gene: SMDT1 was added gene: SMDT1 was added to Mitochondrial disease. Sources: Literature Mode of inheritance for gene: SMDT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SMDT1 were set to 37454773 Phenotypes for gene: SMDT1 were set to Mitochondrial disease, MONDO:0044970, SMDT1-related Review for gene: SMDT1 was set to AMBER Added comment: PMID 37454773 reports 2 individuals from 2 unrelated families with homozygous SMDT1 variants (c.142_145del frameshift; c.179C>T missense) presenting with muscle disease characterized by elevated CK, episodic rhabdomyolysis, progressive limb‑girdle weakness and mild developmental delay. Patient fibroblasts lack EMRE, show disrupted MCU complex and severely impaired mitochondrial Ca2+ uptake; wild‑type SMDT1 complementation restores EMRE expression, MCU assembly and Ca2+ uptake. Sources: Literature |
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