| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mendeliome v1.3878 | RNU6-1 | Zornitza Stark Marked gene: RNU6-1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3878 | RNU6-1 | Zornitza Stark Gene: rnu6-1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3878 | RNU6-1 | Zornitza Stark Classified gene: RNU6-1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3878 | RNU6-1 | Zornitza Stark Gene: rnu6-1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3877 | RNU6-1 |
Zornitza Stark gene: RNU6-1 was added gene: RNU6-1 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: RNU6-1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RNU6-1 were set to 39830270 Phenotypes for gene: RNU6-1 were set to retinitis pigmentosa MONDO:0019200, RNU6-1-related Review for gene: RNU6-1 was set to GREEN Added comment: RNU6-1 encodes the U6 small nuclear RNA, a core spliceosomal component involved in pre-mRNA splicing. PMID 39830270 reports 99 individuals with autosomal dominant adolescent-onset progressive retinitis pigmentosa caused by heterozygous insertion variants (n.55_56insG and n.56_57insG). The disease follows a dominant inheritance pattern with de novo events confirmed in seven individuals, and functional assays demonstrate a dominant‑negative effect via increased binding of mutant U6 snRNA to SART3 and PRPF31. Preprint. Sources: Literature |
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