10 Matching Annotations
  1. Oct 2026
  2. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Confirmation of FZD5 implication in a cohort of 50 patients with ocular coloboma
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    pubmed.ncbi.nlm.nih.gov/32737437/
  3. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Exome analysis identified a novel mutation in the RBP4 gene in a consanguineous pedigree with retinal dystrophy and developmental abnormalities
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    pubmed.ncbi.nlm.nih.gov/23189188/
  4. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Maternal transmission of RBP4 congenital eye disease: can Vitamin A help?
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    pubmed.ncbi.nlm.nih.gov/36342076/
  5. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    RBP4-related eye disease in a Danish family with retinitis pigmentosa and congenital ocular malformations
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    pubmed.ncbi.nlm.nih.gov/36317196/
  6. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    A novel homozygous c.67C>T variant in retinol binding protein 4 (RBP4) associated with retinitis pigmentosa and childhood acne vulgaris
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    pubmed.ncbi.nlm.nih.gov/32323592/
  7. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Phenotype in retinol deficiency due to a hereditary defect in retinol binding protein synthesis
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    1. ClingenBaseline 22 Oct 2026
      Phenotype in retinol deficiency due to a hereditary defect in retinol binding protein synthesis

      PMID: 9888420

      Gene: RBP4

      HGNC: 9922

      Disease: progressive retinal dystrophy due to retinol transport defect

      MONDO: 0014060

      InheritancePattern: autosomal recessive

      Prevalence: RBP4-related cases have an estimated prevalence of less than 1 in 1,000,000 (https://www.orpha.net/en/disease/detail/352718?search=&mode=name)

      Penetrance: RBP4 disease-causing variants appear to have complete penetrance in biallelic cases.

      General ClinGen Gene:RBP4 HGNC:9922 inferred_gene_hgnc:9922 inferred_gene_source:hgnc_tag Retina GCEP
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    pubmed.ncbi.nlm.nih.gov/9888420/
  8. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Biochemical Basis for Dominant Inheritance, Variable Penetrance, and Maternal Effects in RBP4 Congenital Eye Disease
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    pubmed.ncbi.nlm.nih.gov/25910211/
  9. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Panel-based whole exome sequencing identifies novel mutations in microphthalmia and anophthalmia patients showing complex Mendelian inheritance patterns
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    pubmed.ncbi.nlm.nih.gov/29178648/
  10. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Severe ocular phenotypes in Rbp4-deficient mice in the C57BL/6 genetic background
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    pubmed.ncbi.nlm.nih.gov/26974396/
  11. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease
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    ncbi.nlm.nih.gov/pmc/articles/PMC5223092/