| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Congenital ophthalmoplegia v0.22 | ROBO3 | Zornitza Stark Marked gene: ROBO3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital ophthalmoplegia v0.22 | ROBO3 | Zornitza Stark Gene: robo3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital ophthalmoplegia v0.22 | ROBO3 | Zornitza Stark Classified gene: ROBO3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital ophthalmoplegia v0.22 | ROBO3 | Zornitza Stark Gene: robo3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital ophthalmoplegia v0.8 | ROBO3 |
Shannon LeBlanc gene: ROBO3 was added gene: ROBO3 was added to Congenital fibrosis of the extraocular muscles. Sources: Literature Mode of inheritance for gene: ROBO3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ROBO3 were set to PMID: 15105459; 16525029 Phenotypes for gene: ROBO3 were set to Gaze palsy, familial horizontal, with progressive scoliosis, 1 (MIM#607313) Review for gene: ROBO3 was set to GREEN Added comment: PMID 15105459: 10 patients with homozygous variants (1 nonsense, 1 splice site, 2 frameshift, and 6 missense mutations) PMID 16525029 - 2 unrelated children with sporadic HGPPS: one patient compound het for 2 different 2-bp deletions, one patient compound het for a missense and a nonsense mutation. Sources: Literature |
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