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| Mendeliome v1.4087 | RNU4-2 | Zornitza Stark edited their review of gene: RNU4-2: Added comment: PMID 39830270: Reports 36 individuals from 13 unrelated families with heterozygous dominant variants n.18_19insA and n.56T>C in RNU4-2 presenting with autosomal dominant retinitis pigmentosa (adRP). Night‑blindness and progressive peripheral vision loss start in late adolescence/early adulthood, with classic RP fundus changes, cystoid macular edema, and cataracts. Both inherited and de novo cases are observed. Immunoprecipitation assays demonstrate increased association of mutant U4 snRNA with di‑snRNP proteins SART3 and PRPF31, indicating a gain‑of‑function/dominant‑negative effect on snRNP biogenesis. PREPRINT; Changed publications: 38991538, 40297424, 39830270; Changed phenotypes: Neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language, MIM# 620851, Retinitis pigmentosa, MONDO:0019200, RNU4-2 related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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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| Mendeliome v1.3881 | RNU6-8 |
Zornitza Stark gene: RNU6-8 was added gene: RNU6-8 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: RNU6-8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RNU6-8 were set to 39830270 Phenotypes for gene: RNU6-8 were set to Retinitis pigmentosa MONDO:0019200, RNU6-8-related Review for gene: RNU6-8 was set to GREEN Added comment: PMID 39830270 reports multiple individuals with a dominant insertion variant (n.55_56insG) in RNU6-8 presenting with autosomal dominant retinitis pigmentosa, adolescent onset and progressive peripheral vision loss. Co‑IP assays demonstrate increased binding of mutant U6 snRNA to SART3 and PRPF31, supporting a dominant‑negative mechanism; both de novo and inherited cases are described. Note multiple RNU6 paralogues. Sources: Literature |
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| 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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| Mendeliome v0.8728 | PRPF31 | Zornitza Stark Marked gene: PRPF31 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.8728 | PRPF31 | Zornitza Stark Gene: prpf31 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.8728 | PRPF31 | Zornitza Stark Phenotypes for gene: PRPF31 were changed from to Retinitis pigmentosa 11, MIM#600138 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.8727 | PRPF31 | Zornitza Stark Publications for gene: PRPF31 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.8726 | PRPF31 | Zornitza Stark Mode of inheritance for gene: PRPF31 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.8725 | PRPF31 | Zornitza Stark Tag SV/CNV tag was added to gene: PRPF31. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.8725 | PRPF31 | Zornitza Stark reviewed gene: PRPF31: Rating: GREEN; Mode of pathogenicity: None; Publications: 32014492; Phenotypes: Retinitis pigmentosa 11, MIM#600138; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.0 | PRPF31 |
Zornitza Stark gene: PRPF31 was added gene: PRPF31 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PRPF31 was set to Unknown |
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