Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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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 |