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  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    TRPM1 is required for the depolarizing light response in retinal ON-bipolar cells
    1
    1. ClingenBaseline 21 Oct 2026
      TRPM1 is required for the depolarizing light response in retinal ON-bipolar cells

      PMID: 19861548

      Gene: TRPM1

      HGNC: 7146

      Disease: congenital stationary night blindness 1C

      MONDO: MONDO:0013183

      InheritancePattern: autosomal recessive

      Prevalence: Congenital stationary night blindness has an estimated prevalence between 1 in 6,000 (PMID: 31427709) and 1 in 300,000 (PMID: 3487908). However, the prevalence of congenital stationary night blindness 1C specifically is unknown.

      Penetrance: Penetrance is thought to be complete.

      General ClinGen Gene:TRPM1 HGNC:7146 inferred_gene_hgnc:7146 inferred_gene_source:hgnc_tag Retina GCEP
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    ncbi.nlm.nih.gov/pmc/articles/PMC2776419/
  3. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Regulation of melastatin, a TRP-related protein, through interaction with a cytoplasmic isoform
    1
    1. ClingenBaseline 21 Oct 2026
      Regulation of melastatin, a TRP-related protein, through interaction with a cytoplasmic isoform

      PMID: 11535825

      Gene: TRPM1

      HGNC: 7146

      Disease: congenital stationary night blindness 1C

      MONDO: MONDO:0013183

      InheritancePattern: autosomal recessive

      Prevalence: Congenital stationary night blindness has an estimated prevalence between 1 in 6,000 (PMID: 31427709) and 1 in 300,000 (PMID: 3487908). However, the prevalence of congenital stationary night blindness 1C specifically is unknown.

      Penetrance: Penetrance is thought to be complete.

      General ClinGen Gene:TRPM1 HGNC:7146 inferred_gene_hgnc:7146 inferred_gene_source:hgnc_tag Retina GCEP
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    ncbi.nlm.nih.gov/pmc/articles/PMC58528/