| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Ataxia v2.197 | RTN4IP1 | Bryony Thompson Marked gene: RTN4IP1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.197 | RTN4IP1 | Bryony Thompson Gene: rtn4ip1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.197 | RTN4IP1 | Bryony Thompson Classified gene: RTN4IP1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.197 | RTN4IP1 | Bryony Thompson Gene: rtn4ip1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.196 | RTN4IP1 |
Bryony Thompson gene: RTN4IP1 was added gene: RTN4IP1 was added to Ataxia. Sources: Literature Mode of inheritance for gene: RTN4IP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RTN4IP1 were set to 42098149; 36231115; 33037779 Phenotypes for gene: RTN4IP1 were set to optic atrophy 10 with or without ataxia, intellectual disability, and seizures, MONDO:0020737 Review for gene: RTN4IP1 was set to GREEN Added comment: Biallelic RTN4IP1 loss‑of‑function variants cause optic atrophy, intellectual disability and seizures with or without ataxia. Sources: Literature |
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