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| Optic Atrophy v1.45 | KIF5A | Bryony Thompson Marked gene: KIF5A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic Atrophy v1.45 | KIF5A | Bryony Thompson Gene: kif5a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic Atrophy v1.45 | KIF5A | Bryony Thompson Classified gene: KIF5A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic Atrophy v1.45 | KIF5A | Bryony Thompson Gene: kif5a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic Atrophy v1.44 | KIF5A |
Bryony Thompson gene: KIF5A was added gene: KIF5A was added to Optic Atrophy. Sources: Literature Mode of inheritance for gene: KIF5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KIF5A were set to 35921593; 27463701 Phenotypes for gene: KIF5A were set to myoclonus, intractable, neonatal MONDO:0014979; Leber hereditary optic neuropathy MONDO:0010788 Mode of pathogenicity for gene: KIF5A was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: KIF5A was set to GREEN Added comment: Optic atrophy has been reported as a feature of the NEIMY phenotype, and a missense variant has been reported in a family with LHON. Dominant negative effects and toxic gain-of-function are the mechanism of disease for this gene. Sources: Literature |
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