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Optic neuropathy v1.28 OPA3 Tom Cullup reviewed gene: OPA3: Rating: GREEN; Mode of pathogenicity: ; Publications: 25159689, 26190011; Phenotypes: Autosomal Dominant Optic Atrophy, optic atrophy and cataracts, Optic atrophy 3 with cataract; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Optic neuropathy v1.27 OPA3 Ivone Leong Source London North GLH was added to OPA3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Optic neuropathy OPA3 Panagiotis Sergouniotis reviewed gene: OPA3
Optic neuropathy OPA3 Ellen McDonagh marked OPA3 as ready
Optic neuropathy OPA3 Ellen McDonagh commented on OPA3