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| Mendeliome v1.3997 | NOP58 | Zornitza Stark Marked gene: NOP58 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3997 | NOP58 | Zornitza Stark Gene: nop58 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3997 | NOP58 |
Zornitza Stark gene: NOP58 was added gene: NOP58 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: NOP58 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NOP58 were set to 41383020 Phenotypes for gene: NOP58 were set to Neurodevelopmental disorder, MONDO:0700092, NOP58-related Review for gene: NOP58 was set to RED Added comment: PMID 41383020 reports a single individual with homozygous hypomorphic loss‑of‑function synonymous variant c.516G>A in NOP58 presenting with severe neurodevelopmental disorder characterized by global developmental delay, microcephaly, early‑onset seizures, facial dysmorphism, and brain structural anomalies. Functional studies in patient fibroblasts demonstrated exon 7 skipping, ~12 % residual NOP58 protein, reduced fibrillarin, altered nucleolar morphology, decreased box C/D snoRNAs, and impaired pre‑rRNA maturation. Sources: Literature |
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