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| Optic Atrophy v0.85 | RTN4IP1 | Zornitza Stark Marked gene: RTN4IP1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic Atrophy v0.85 | RTN4IP1 | Zornitza Stark Gene: rtn4ip1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic Atrophy v0.84 | RTN4IP1 | Zornitza Stark Classified gene: RTN4IP1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic Atrophy v0.84 | RTN4IP1 | Zornitza Stark Gene: rtn4ip1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic Atrophy v0.60 | RTN4IP1 |
Elena Savva gene: RTN4IP1 was added gene: RTN4IP1 was added to Optic Atrophy. Sources: Expert Review Mode of inheritance for gene: RTN4IP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RTN4IP1 were set to PMID: 26593267; 31077085 Phenotypes for gene: RTN4IP1 were set to Optic atrophy 10 with or without ataxia, mental retardation, and seizures Penetrance for gene: RTN4IP1 were set to unknown Review for gene: RTN4IP1 was set to GREEN Added comment: PMID: 26593267 - 4 families with hom missense or chet w/ PTCs and optic atrophy PMID: 31077085 - 1 fam (2 chet sibs) w/ missense and PTC and optic atrophy Sources: Expert Review |
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