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    Phenotype Variations Caused by Mutations in the RP1L1 Gene in a Large Mainly German Cohort
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    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/