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Date	Panel	Item	Activity
Filter activities 5 actions
16 Dec 2025	Mitochondrial disease v0.1287	NDUFA3	Zornitza Stark Marked gene: NDUFA3 as ready
16 Dec 2025	Mitochondrial disease v0.1287	NDUFA3	Zornitza Stark Gene: ndufa3 has been classified as Amber List (Moderate Evidence).
16 Dec 2025	Mitochondrial disease v0.1287	NDUFA3	Zornitza Stark Classified gene: NDUFA3 as Amber List (moderate evidence)
16 Dec 2025	Mitochondrial disease v0.1287	NDUFA3	Zornitza Stark Gene: ndufa3 has been classified as Amber List (Moderate Evidence).
16 Dec 2025	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