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Date	Panel	Item	Activity
Filter activities 7 actions
16 Dec 2025	Mitochondrial disease v0.1279	DNAJA3	Zornitza Stark Classified gene: DNAJA3 as Amber List (moderate evidence)
16 Dec 2025	Mitochondrial disease v0.1279	DNAJA3	Zornitza Stark Gene: dnaja3 has been classified as Amber List (Moderate Evidence).
16 Dec 2025	Mitochondrial disease v0.1279	DNAJA3	Zornitza Stark Marked gene: DNAJA3 as ready
16 Dec 2025	Mitochondrial disease v0.1279	DNAJA3	Zornitza Stark Gene: dnaja3 has been classified as Amber List (Moderate Evidence).
16 Dec 2025	Mitochondrial disease v0.1279	DNAJA3	Zornitza Stark Classified gene: DNAJA3 as Amber List (moderate evidence)
16 Dec 2025	Mitochondrial disease v0.1279	DNAJA3	Zornitza Stark Gene: dnaja3 has been classified as Amber List (Moderate Evidence).
16 Dec 2025	Mitochondrial disease v0.1278	DNAJA3	Zornitza Stark gene: DNAJA3 was added gene: DNAJA3 was added to Mitochondrial disease. Sources: Literature Mode of inheritance for gene: DNAJA3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DNAJA3 were set to 34750646; 30770860 Phenotypes for gene: DNAJA3 were set to Mitochondrial disease, MONDO:0044970, DNAJA3-related Review for gene: DNAJA3 was set to AMBER Added comment: PMID 30770860 reports 1 individual from a consanguineous family with a homozygous missense variant c.452G>C (p.Arg151Thr) causing developmental delay, intellectual disability, basal‑ganglia abnormalities and peripheral polyneuropathy; PMID 34750646 reports 1 individual from a second unrelated consanguineous family with a homozygous missense c.1282G>A causing childhood‑onset neuroregressive mitochondrial disease with seizures, optic atrophy and basal‑ganglia lesions. Limited functional data. Sources: Literature