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| Mitochondrial disease v1.12 | NDUFA3 | Zornitza Stark Classified gene: NDUFA3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v1.12 | NDUFA3 | Zornitza Stark Gene: ndufa3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v1.11 | NDUFA3 | Zornitza Stark edited their review of gene: NDUFA3: Added comment: Third unrelated family reported in PMID 41404351, intronic variants with abnormal splicing demonstrated.; Changed rating: GREEN; Changed publications: 41038977, 39661167, 41404351 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.1287 | NDUFA3 | Zornitza Stark Marked gene: NDUFA3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.1287 | NDUFA3 | Zornitza Stark Gene: ndufa3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.1287 | NDUFA3 | Zornitza Stark Classified gene: NDUFA3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.1287 | NDUFA3 | Zornitza Stark Gene: ndufa3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.1286 | NDUFA3 |
Zornitza Stark gene: NDUFA3 was added gene: NDUFA3 was added to Mitochondrial disease. Sources: Literature Mode of inheritance for gene: NDUFA3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDUFA3 were set to 41038977; 39661167 Phenotypes for gene: NDUFA3 were set to Mitochondrial disease, MONDO:0044970,NDUFA3-related Review for gene: NDUFA3 was set to AMBER Added comment: PMID 39661167 reports three affected siblings from one unrelated family and PMID 41038977 reports one affected individual from a second unrelated family, both with early‑onset Leigh syndrome due to biallelic loss‑of‑function NDUFA3 variants. Functional studies demonstrate loss of complex I activity and rescue experiments supporting pathogenicity. Sources: Literature |
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