| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Congenital ophthalmoplegia v0.69 | RRM2B | Zornitza Stark Marked gene: RRM2B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital ophthalmoplegia v0.69 | RRM2B | Zornitza Stark Gene: rrm2b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital ophthalmoplegia v0.69 | RRM2B | Zornitza Stark Classified gene: RRM2B as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital ophthalmoplegia v0.69 | RRM2B | Zornitza Stark Gene: rrm2b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital ophthalmoplegia v0.66 | RRM2B |
Shannon LeBlanc gene: RRM2B was added gene: RRM2B was added to Congenital ophthalmoplegia. Sources: Literature Mode of inheritance for gene: RRM2B was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: RRM2B were set to PMID: 17486094; 19138848; 24741716; 31462754 Phenotypes for gene: RRM2B were set to Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) - 612075; Mitochondrial DNA depletion syndrome 8B (MNGIE type) - 612075; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 - 613077 Review for gene: RRM2B was set to GREEN Added comment: Neonatal onset. Ophthalmoplegia and ptosis are common features. Sources: Literature |
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