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    De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa
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    1. ClingenBaseline 22 Oct 2026
      De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa

      PMID: 41513982

      Gene: RNU4-2

      HGNC: 10193

      Disease: inherited retinal dystrophy

      MONDO: 0019118

      InheritancePattern: autosomal dominant

      Prevalence: The prevelance of retinitis pigmentosa in general is between 1 in 750 and 1 in 9,000 individuals (PMID: 37108642). The proportion of those cases caused by RNU4-2 variants is not well known.

      Penetrance: Penetrance appears to be incomplete, with family pedigrees including apparently unaffected carriers.

      General ClinGen Gene:RNU4-2 HGNC:10193 inferred_gene_hgnc:10193 inferred_gene_source:hgnc_tag Retina GCEP
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    pmc.ncbi.nlm.nih.gov/articles/PMC12807869/