| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mitochondrial disease v0.631 | DNAJC30 | Zornitza Stark Phenotypes for gene: DNAJC30 were changed from Leber Hereditary Optic Neuropathy to Leber Hereditary Optic Neuropathy, MIM#619382 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.630 | DNAJC30 | Zornitza Stark reviewed gene: DNAJC30: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Leber Hereditary Optic Neuropathy, MIM#619382; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.576 | DNAJC30 | Zornitza Stark Marked gene: DNAJC30 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.576 | DNAJC30 | Zornitza Stark Gene: dnajc30 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.576 | DNAJC30 | Zornitza Stark Classified gene: DNAJC30 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.576 | DNAJC30 | Zornitza Stark Gene: dnajc30 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.575 | DNAJC30 |
John Christodoulou gene: DNAJC30 was added gene: DNAJC30 was added to Mitochondrial disease. Sources: Literature Mode of inheritance for gene: DNAJC30 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DNAJC30 were set to PMID: 33465056 Phenotypes for gene: DNAJC30 were set to Leber Hereditary Optic Neuropathy Penetrance for gene: DNAJC30 were set to Incomplete Review for gene: DNAJC30 was set to GREEN Added comment: 33 individuals from 29 families had homozygous DNAJC30 missense variants. Three different variants identified (one responsible for most cases0. All three variants not seen in gnomAD. Interestingly - incomplete penetrance and male predominance in affected individuals both typical of LHON due to mtDNA mutations! All 3 variants in the J domain of the protein. Good functional evidence also provided This is the first nuclear encoded phenocopy of mtLHON. Sources: Literature |
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