| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Congenital ophthalmoplegia v0.55 | MFF | Zornitza Stark Marked gene: MFF as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital ophthalmoplegia v0.55 | MFF | Zornitza Stark Gene: mff has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital ophthalmoplegia v0.55 | MFF | Zornitza Stark Classified gene: MFF as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital ophthalmoplegia v0.55 | MFF | Zornitza Stark Gene: mff has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital ophthalmoplegia v0.54 | MFF |
Zornitza Stark gene: MFF was added gene: MFF was added to Congenital ophthalmoplegia. Sources: Expert list Mode of inheritance for gene: MFF was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MFF were set to 26783368 Phenotypes for gene: MFF were set to Encephalopathy due to defective mitochondrial and peroxisomal fission 2, MIM# 617086 Review for gene: MFF was set to GREEN Added comment: Ophthalmoplegia is a feature along with severe hypotonia with inability to walk, microcephaly, and abnormal signals in the basal ganglia. Sources: Expert list |
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