| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Congenital ophthalmoplegia v0.79 | SURF1 | Zornitza Stark Marked gene: SURF1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital ophthalmoplegia v0.79 | SURF1 | Zornitza Stark Gene: surf1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital ophthalmoplegia v0.79 | SURF1 | Zornitza Stark Classified gene: SURF1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital ophthalmoplegia v0.79 | SURF1 | Zornitza Stark Gene: surf1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital ophthalmoplegia v0.73 | SURF1 |
Shannon LeBlanc gene: SURF1 was added gene: SURF1 was added to Congenital ophthalmoplegia. Sources: Literature Mode of inheritance for gene: SURF1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SURF1 were set to PMID: 10746561; 29933018; 33134083 Phenotypes for gene: SURF1 were set to Mitochondrial complex IV deficiency, nuclear type 1 OMIM 220110 Review for gene: SURF1 was set to GREEN Added comment: Oculomotor abnormalities such as slow saccades, ophthalmoparesis or complex irregular eye movements are a feature. Sources: Literature |
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