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| Optic Atrophy v0.61 | DNM1L | Zornitza Stark Marked gene: DNM1L as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic Atrophy v0.61 | DNM1L | Zornitza Stark Gene: dnm1l has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic Atrophy v0.61 | DNM1L | Zornitza Stark Classified gene: DNM1L as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic Atrophy v0.61 | DNM1L | Zornitza Stark Gene: dnm1l has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic Atrophy v0.60 | DNM1L |
Crystle Lee gene: DNM1L was added gene: DNM1L was added to Optic Atrophy. Sources: Expert Review Mode of inheritance for gene: DNM1L was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: DNM1L were set to 28969390; 30850373; 17460227 Phenotypes for gene: DNM1L were set to Optic atrophy 5 (MIM#610708) Mode of pathogenicity for gene: DNM1L was set to Other Review for gene: DNM1L was set to GREEN Added comment: Reported in patients with isolated OA and as a feature of a multisystem disorder PMID: 28969390; Gerber 2017: 2 different variants reported in 3 large families with isolated DOA. Functional studies shown to exert dominant-negative effect PMID: 30850373; Assia 2019: Optic atrophy reported as a feature in a patient with a de novo missense. (reported gene as DLP1) PMID: 17460227; Waterham 2007; Optic atrophy reported as a feature in 1 patient Sources: Expert Review |
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