| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Retinitis pigmentosa v1.3 | SAXO6 | Zornitza Stark Marked gene: SAXO6 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinitis pigmentosa v1.3 | SAXO6 | Zornitza Stark Gene: saxo6 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinitis pigmentosa v1.3 | SAXO6 | Zornitza Stark Classified gene: SAXO6 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinitis pigmentosa v1.3 | SAXO6 | Zornitza Stark Gene: saxo6 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinitis pigmentosa v1.2 | SAXO6 |
Zornitza Stark gene: SAXO6 was added gene: SAXO6 was added to Retinitis pigmentosa. Sources: Literature Mode of inheritance for gene: SAXO6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SAXO6 were set to 41742423 Phenotypes for gene: SAXO6 were set to Retinitis pigmentosa 108, MIM# 621637 Review for gene: SAXO6 was set to GREEN Added comment: 6 individuals from 5 families reported adult-onset with retinal dystrophy and biallelic variants in the SAXO6 gene. Two individuals were clinically diagnosed with cone-rod dystrophy and the remainder with retinitis pigmentosa. Sources: Literature |
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