| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mendeliome v1.3884 | RNU6-9 | Zornitza Stark Marked gene: RNU6-9 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3884 | RNU6-9 | Zornitza Stark Gene: rnu6-9 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3884 | RNU6-9 | Zornitza Stark Classified gene: RNU6-9 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3884 | RNU6-9 | Zornitza Stark Gene: rnu6-9 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3883 | RNU6-9 |
Zornitza Stark gene: RNU6-9 was added gene: RNU6-9 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: RNU6-9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RNU6-9 were set to 39830270 Phenotypes for gene: RNU6-9 were set to retinitis pigmentosa MONDO:0019200, RNU6-9-related Review for gene: RNU6-9 was set to GREEN Added comment: PMID 39830270 reports 99 individuals with autosomal dominant retinitis pigmentosa, adolescent onset, progressive visual field loss, caused by de novo and inherited insertion variants n.55_56insG and n.56_57insG in RNU6-9. The variants act via a dominant‑negative mechanism and co‑immunoprecipitation in HeLa cells shows increased binding to SART3 and PRPF31. Note multiple RNU6 paralogues. Sources: Literature |
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