3 Matching Annotations
  1. Oct 2026
  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Long-Range PCR-Based NGS Applications to Diagnose Mendelian Retinal Diseases
    1
    1. ClingenBaseline 22 Oct 2026
      Long-Range PCR-Based NGS Applications to Diagnose Mendelian Retinal Diseases

      PMID: 33546218

      Gene: PROM1

      HGNC: 9454

      Disease: retinitis pigmentosa 41

      MONDO: 0012796

      InheritancePattern: autosomal recessive

      Prevalence: The overall prevalence of retinitis pigmentosa is between 1 in 3,000 and 1 in 4,000 individuals, while the proportion of retinitis pigmentosa with a recessive mode of inheritance is estimated to be 65-85% (between 1 in 3,500 and 1 in 6,200). The proportion of that incidence made up by the specific form caused by biallelic variants in PROM1 is not clear.

      Penetrance: Known disease-causing alleles appear to be completely penetrant in the homozygous state, and for at least some heterozygous variants associated with other disease entities.

      General ClinGen Gene:PROM1 HGNC:9454 inferred_gene_hgnc:9454 inferred_gene_source:hgnc_tag Retina GCEP
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    ncbi.nlm.nih.gov/pmc/articles/PMC7913364/
  3. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Identification of novel PROM1 mutations responsible for autosomal recessive maculopathy with rod-cone dystrophy
    1
    1. ClingenBaseline 22 Oct 2026
      Identification of novel PROM1 mutations responsible for autosomal recessive maculopathy with rod-cone dystrophy

      PMID: 30588538

      Gene: PROM1

      HGNC: 9454

      Disease: retinitis pigmentosa 41

      MONDO: 0012796

      InheritancePattern: autosomal recessive

      Prevalence: The overall prevalence of retinitis pigmentosa is between 1 in 3,000 and 1 in 4,000 individuals, while the proportion of retinitis pigmentosa with a recessive mode of inheritance is estimated to be 65-85% (between 1 in 3,500 and 1 in 6,200). The proportion of that incidence made up by the specific form caused by biallelic variants in PROM1 is not clear.

      Penetrance: Known disease-causing alleles appear to be completely penetrant in the homozygous state, and for at least some heterozygous variants associated with other disease entities.

      General ClinGen Gene:PROM1 HGNC:9454 inferred_gene_hgnc:9454 inferred_gene_source:hgnc_tag Retina GCEP
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    pubmed.ncbi.nlm.nih.gov/30588538/
  4. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation
    1
    1. ClingenBaseline 21 Oct 2026
      Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation

      PMID: 26103963

      Gene: PROM1

      HGNC: 9454

      Disease: retinitis pigmentosa 41

      MONDO: 0012796

      InheritancePattern: autosomal recessive

      Prevalence: The overall prevalence of retinitis pigmentosa is between 1 in 3,000 and 1 in 4,000 individuals, while the proportion of retinitis pigmentosa with a recessive mode of inheritance is estimated to be 65-85% (between 1 in 3,500 and 1 in 6,200). The proportion of that incidence made up by the specific form caused by biallelic variants in PROM1 is not clear.

      Penetrance: Known disease-causing alleles appear to be completely penetrant in the homozygous state, and for at least some heterozygous variants associated with other disease entities.

      General ClinGen Gene:PROM1 HGNC:9454 inferred_gene_hgnc:9454 inferred_gene_source:hgnc_tag Retina GCEP
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    ncbi.nlm.nih.gov/pmc/articles/PMC4566196/