| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Congenital ophthalmoplegia v0.61 | NPC1 | Zornitza Stark Marked gene: NPC1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital ophthalmoplegia v0.61 | NPC1 | Zornitza Stark Gene: npc1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital ophthalmoplegia v0.61 | NPC1 | Zornitza Stark Classified gene: NPC1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital ophthalmoplegia v0.61 | NPC1 | Zornitza Stark Gene: npc1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital ophthalmoplegia v0.59 | NPC1 |
Shannon LeBlanc gene: NPC1 was added gene: NPC1 was added to Congenital ophthalmoplegia. Sources: Literature Mode of inheritance for gene: NPC1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NPC1 were set to Niemann-Pick disease, type C, 257220 Review for gene: NPC1 was set to GREEN Added comment: Well established gene-disease association. Vertical supranuclear gaze palsy is an early manifestation in childhood-onset type. Sources: Literature |
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