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| Optic Atrophy v0.80 | MFF | Zornitza Stark Marked gene: MFF as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic Atrophy v0.80 | MFF | Zornitza Stark Added comment: Comment when marking as ready: Optic atrophy is a common feature of this mitochondrial disorder. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic Atrophy v0.80 | MFF | Zornitza Stark Gene: mff has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic Atrophy v0.80 | MFF | Zornitza Stark Classified gene: MFF as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic Atrophy v0.80 | MFF | Zornitza Stark Gene: mff has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic Atrophy v0.60 | MFF |
Elena Savva gene: MFF was added gene: MFF was added to Optic Atrophy. Sources: Expert Review Mode of inheritance for gene: MFF was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MFF were set to PMID: 26783368; 22499341; 30581454 Phenotypes for gene: MFF were set to Encephalopathy due to defective mitochondrial and peroxisomal fission 2 Penetrance for gene: MFF were set to unknown Review for gene: MFF was set to GREEN Added comment: PMID: 26783368 - 2 fams with bilallelic PTCs with optic atrophy PMID: 22499341 - 1 fam with bilallelic PTCs with optic atrophy PMID: 30581454 - 1 patient with bilallelic PTCs with optic atrophy Sources: Expert Review |
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