| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mitochondrial disease v2.0 | DNAJA3 | Gene migrated from ENSG00000103423 to ENSG00000103423 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v1.1 | DNAJA3 | Zornitza Stark Publications for gene: DNAJA3 were set to 34750646; 30770860 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v1.0 | DNAJA3 | Zornitza Stark edited their review of gene: DNAJA3: Added comment: PMID 41354729 describes a third unrelated family with compound heterozygous DNAJA3 missense variants presenting with isolated recurrent polyneuropathy. Retain Amber rating as the genetic and functional data are both limited.; Changed publications: 34750646, 30770860, 41354729 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.1279 | DNAJA3 | Zornitza Stark Classified gene: DNAJA3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.1279 | DNAJA3 | Zornitza Stark Gene: dnaja3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.1279 | DNAJA3 | Zornitza Stark Marked gene: DNAJA3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.1279 | DNAJA3 | Zornitza Stark Gene: dnaja3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.1279 | DNAJA3 | Zornitza Stark Classified gene: DNAJA3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.1279 | DNAJA3 | Zornitza Stark Gene: dnaja3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 |
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