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| Retinitis pigmentosa v0.234 | RNU4-2 |
Zornitza Stark gene: RNU4-2 was added gene: RNU4-2 was added to Retinitis pigmentosa. Sources: Literature Mode of inheritance for gene: RNU4-2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RNU4-2 were set to 39830270 Phenotypes for gene: RNU4-2 were set to Retinitis pigmentosa, MONDO:0019200, RNU4-2 related Review for gene: RNU4-2 was set to GREEN Added comment: 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 Sources: Literature |
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| Retinitis pigmentosa v0.193 | Bryony Thompson Copied gene PRPF31 from panel Retinitis pigmentosa_Autosomal Dominant | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinitis pigmentosa v0.193 | PRPF31 |
Bryony Thompson gene: PRPF31 was added gene: PRPF31 was added to Retinitis pigmentosa_Autosomal Recessive/X-linked. Sources: Expert Review Green,Royal Melbourne Hospital SV/CNV tags were added to gene: PRPF31. Mode of inheritance for gene: PRPF31 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PRPF31 were set to 32014492 Phenotypes for gene: PRPF31 were set to Retinitis pigmentosa 11, 600138 |
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| Retinitis pigmentosa v0.192 | Bryony Thompson Copied gene PRPF3 from panel Retinitis pigmentosa_Autosomal Dominant | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinitis pigmentosa v0.192 | PRPF3 |
Bryony Thompson gene: PRPF3 was added gene: PRPF3 was added to Retinitis pigmentosa_Autosomal Recessive/X-linked. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: PRPF3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PRPF3 were set to 11773002; 27886254 Phenotypes for gene: PRPF3 were set to Retinitis pigmentosa 18, MIM# 601414 |
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