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  1. Oct 2026
  2. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    RP1L1 variants are associated with a spectrum of inherited retinal diseases including retinitis pigmentosa and occult macular dystrophy
    1
    1. ClingenBaseline 24 Oct 2026
      RP1L1 variants are associated with a spectrum of inherited retinal diseases including retinitis pigmentosa and occult macular dystrophy

      PMID: 23281133

      Gene: RP1L1

      HGNC: 15946

      Disease: occult macular dystrophy

      MONDO: 0013316

      InheritancePattern: autosomal dominant

      Prevalence: The prevalence of occult macular dystrophy is "significantly less than one in 10,000 or 100,000 (https://www.reviewofoptometry.com/article/the-best-is-yet-to-come-feb).

      Penetrance: The disease is known to be incompletely penetrant in family members carrying the heterozygous p.Arg45Trp variant (PMID: 20826268).

      General ClinGen Gene:RP1L1 HGNC:15946 inferred_gene_hgnc:15946 inferred_gene_source:hgnc_tag Retina GCEP
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    pubmed.ncbi.nlm.nih.gov/23281133/
  3. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Essential and Synergistic Roles of RP1 and RP1L1 in Rod Photoreceptor Axoneme and Retinitis Pigmentosa
    4
    1. ClingenBaseline 24 Oct 2026
      Rp1L1 interacts with Rp1 in transfected cells and in retina pull-down experiments.

      ExperimentName: RP1L1 physical interaction with RP1

      InteractingGene: HGNC:10263 (RP1)

      InteractionType: Physical interaction

      InteractionMethod: Co-immunoprecipitation

      InteractionEvidence: Immunoprecipitation of Rp1 or Rp1l1 from transfected 293T cells successfully led to co-immunoprecipitation of the other, indicating their presence in a complex (Figure 7).

      Experimental Function ProteinInteraction Gene:RP1L1 HGNC:15946 inferred_gene_hgnc:15946 inferred_gene_source:hgnc_tag Retina GCEP
    2. ClingenBaseline 23 Oct 2026
      To determine the subcellular localization of Rp1L1 in rods, we double stained Rp1L1 and rhodopsin, Rp1, or γ-tubulin in dissociated OS preparations (Fig. 2B). Rhodopsin localizes to OS discs, Rp1 localizes to the axoneme of the basal OS (Zhao et al., 2003; Liu et al., 2004), and γ-tubulin localizes to the basal bodies of the CCs (Hong et al., 2001). We found that Rp1L1 localized to the axoneme of both the OS and CCs but not to the axoneme of the IS or on the basal bodies (Figs. 1E, 2B). Recent photoreceptor sensory cilium complex proteome revealed Rp1L1 expression in the OS but not in the IS, consistent with our observations (Liu et al., 2007). Furthermore, Rp1L1 coexisted with Rp1 only in the OS axoneme but not in the CCs; Rp1L1 and Rp1 appeared localized along the entire length of OS axoneme but were more concentrated at the basal third OS, consistent with previous findings (Fig. 2B, bottom) (Zhao et al., 2003; Liu et al., 2004). To determine whether Rp1L1 was colocalized with microtubules in the axoneme, we stained Rp1L1 in retinal sections with α-acetylated tubulin, which is a marker of polymerized microtubules, including those of the axoneme (Fig. 2C). All Rp1L1 signals were colocalized with axoneme-positive signals. Only a small amount of α-acetylated tubulin-positive axoneme did not appear to include Rp1L1. These were probably the axonemes of cones, which lack Rp1L1 (Fig. 2C, long arrowhead). These findings suggest that both Rp1L1 and Rp1 are expressed in the rod photoreceptor axoneme.

      Selection B- Gene function is consistent with phenotype.

      ExperimentName: RP1L1 protein localizes to the axoneme of the outer segment of rod photoreceptor cells, but not to the connecting cilium, inner segment, or basal bodies (and from cone cells altogether).

      GOterm: GO:0120200 (rod photoreceptor outer segment)

      FunctionalEvidence: Immunofluorescent staining of Rp1l1 was performed in retinal sections, with staining of rhodopsin, Rp1, and gamma-tubulin for comparison (Figures 1E, 2A, 2B, 2C).

      FunctionalHPO: Macular dystrophy HP:0007754, Reduced visual acuity HP:0007663

      Experimental Function BiochemicalFunction Gene:RP1L1 HGNC:15946 inferred_gene_hgnc:15946 inferred_gene_source:hgnc_tag Retina GCEP
    3. ClingenBaseline 23 Oct 2026
      Essential and Synergistic Roles of RP1 and RP1L1 in Rod Photoreceptor Axoneme and Retinitis Pigmentosa

      PMID: 19657028

      Gene: RP1L1

      HGNC: 15946

      Disease: occult macular dystrophy

      MONDO: 0013316

      InheritancePattern: autosomal dominant

      Prevalence: The prevalence of occult macular dystrophy is "significantly less than one in 10,000 or 100,000 (https://www.reviewofoptometry.com/article/the-best-is-yet-to-come-feb).

      Penetrance: The disease is known to be incompletely penetrant in family members carrying the heterozygous p.Arg45Trp variant (PMID: 20826268).

      General ClinGen Gene:RP1L1 HGNC:15946 inferred_gene_hgnc:15946 inferred_gene_source:hgnc_tag Retina GCEP
    4. ClingenBaseline 22 Oct 2026
      Rp1L1−/− mice display scattered OS disorganization, reduced electroretinogram amplitudes, and progressive photoreceptor degeneration, less severe and slower than in Rp1−/− mice. In single rods of Rp1L1−/−, photosensitivity is reduced, similar to that of Rp1−/−. While individual heterozygotes are normal
      Experimental ModelSystems ModelOrganism Gene:RP1L1 HGNC:15946 inferred_gene_hgnc:15946 inferred_gene_source:hgnc_tag Retina GCEP
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    pmc.ncbi.nlm.nih.gov/articles/PMC2748320/
  4. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Dominant mutations in RP1L1 are responsible for occult macular dystrophy
    1
    1. ClingenBaseline 23 Oct 2026
      Dominant mutations in RP1L1 are responsible for occult macular dystrophy

      PMID: 20826268

      Gene: RP1L1

      HGNC: 15946

      Disease: occult macular dystrophy

      MONDO: 0013316

      InheritancePattern: autosomal dominant

      Prevalence: The prevalence of occult macular dystrophy is "significantly less than one in 10,000 or 100,000 (https://www.reviewofoptometry.com/article/the-best-is-yet-to-come-feb).

      Penetrance: The disease is known to be incompletely penetrant in family members carrying the heterozygous p.Arg45Trp variant (PMID: 20826268).

      General ClinGen Gene:RP1L1 HGNC:15946 inferred_gene_hgnc:15946 inferred_gene_source:hgnc_tag Retina GCEP
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    pubmed.ncbi.nlm.nih.gov/20826268/
  5. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Phenotypic and Genotypic Characterization of RP1L1-Associated Retinopathy
    1
    1. ClingenBaseline 23 Oct 2026
      Phenotypic and Genotypic Characterization of RP1L1-Associated Retinopathy

      PMID: 40172514

      Gene: RP1L1

      HGNC: 15946

      Disease: occult macular dystrophy

      MONDO: 0013316

      InheritancePattern: autosomal dominant

      Prevalence: The prevalence of occult macular dystrophy is "significantly less than one in 10,000 or 100,000 (https://www.reviewofoptometry.com/article/the-best-is-yet-to-come-feb).

      Penetrance: The disease is known to be incompletely penetrant in family members carrying the heterozygous p.Arg45Trp variant (PMID: 20826268).

      General ClinGen Gene:RP1L1 HGNC:15946 inferred_gene_hgnc:15946 inferred_gene_source:hgnc_tag Retina GCEP
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    pmc.ncbi.nlm.nih.gov/articles/PMC11967996/
  6. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Phenotype Variations Caused by Mutations in the RP1L1 Gene in a Large Mainly German Cohort
    1
    1. ClingenBaseline 21 Oct 2026
      Phenotype Variations Caused by Mutations in the RP1L1 Gene in a Large Mainly German Cohort

      PMID: 30025130

      Gene: RP1L1

      HGNC: 15946

      Disease: occult macular dystrophy

      MONDO: 0013316

      InheritancePattern: autosomal dominant

      Prevalence: The prevalence of occult macular dystrophy is "significantly less than one in 10,000 or 100,000 (https://www.reviewofoptometry.com/article/the-best-is-yet-to-come-feb).

      Penetrance: The disease is known to be incompletely penetrant in family members carrying the heterozygous p.Arg45Trp variant (PMID: 20826268).

      General ClinGen Gene:RP1L1 HGNC:15946 inferred_gene_hgnc:15946 inferred_gene_source:hgnc_tag Retina GCEP
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    pubmed.ncbi.nlm.nih.gov/30025130/