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Congenital ophthalmoplegia v0.43 OPA1 Zornitza Stark Marked gene: OPA1 as ready
Congenital ophthalmoplegia v0.43 OPA1 Zornitza Stark Gene: opa1 has been classified as Green List (High Evidence).
Congenital ophthalmoplegia v0.43 OPA1 Zornitza Stark Classified gene: OPA1 as Green List (high evidence)
Congenital ophthalmoplegia v0.43 OPA1 Zornitza Stark Gene: opa1 has been classified as Green List (High Evidence).
Congenital ophthalmoplegia v0.42 OPA1 Zornitza Stark gene: OPA1 was added
gene: OPA1 was added to Congenital ophthalmoplegia. Sources: Expert list
Mode of inheritance for gene: OPA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: OPA1 were set to Optic atrophy plus syndrome, MIM# 125250
Review for gene: OPA1 was set to GREEN
Added comment: Childhood onset disorder, characterised by optic atrophy, but progressive external ophthalmoplegia can be a feature.
Sources: Expert list