| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mendeliome v1.3880 | RNU6-2 | Zornitza Stark Marked gene: RNU6-2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3880 | RNU6-2 | Zornitza Stark Gene: rnu6-2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3880 | RNU6-2 | Zornitza Stark Classified gene: RNU6-2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3880 | RNU6-2 | Zornitza Stark Gene: rnu6-2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3879 | RNU6-2 |
Zornitza Stark gene: RNU6-2 was added gene: RNU6-2 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: RNU6-2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RNU6-2 were set to 39830270 Phenotypes for gene: RNU6-2 were set to Retinitis pigmentosa MONDO:0019200, RNU6-2-related Review for gene: RNU6-2 was set to GREEN Added comment: PMID 39830270 reports 99 individuals with autosomal dominant retinitis pigmentosa, adolescent onset and progressive peripheral vision loss. Insertion variants n.55_56insG and n.56_57insG in the U6 snRNA were identified, with de novo events in several cases and inherited segregation in others. Co‑IP assays demonstrate increased binding of mutant U6 to di‑snRNP proteins, indicating a dominant‑negative gain‑of‑function effect on spliceosomal assembly. Sources: Literature |
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