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  2. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Prescreening whole exome sequencing results from patients with retinal degeneration for variants in genes associated with retinal degeneration
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    1. Vibhor 09 Jul 2026
      JB260 Stargardt ABCA4 c.6119G>A p.Arg2040Gln rs148460146 Zernant et al (2014)50 c.2879del p.Ala960Aspfs*17 N/A

      Case#: Bryant Subject JB260, US

      DiseaseAssertion: Stargardt

      FamilyInfo:

      CasePresentingHPOs: "Stargardt disease is a childhood-onset macular degeneration and is most commonly caused by mutations in ABCA4. Characteristic yellow flecks are typically seen under the macula during a fundus exam."

      CaseHPOFreeText:

      CaseNotHPOs:

      CaseNotHPOFreeText:

      GenotypingMethod: WES; previously screened using arrayed primer extension (APEX) multigene panels for the relevant disease and no disease-causing variants had been identified; PCR and Sanger for verification

      PreviouslyPublished: n/a

      Variant: c.6119G>A p.Arg2040Gln; c.2879del p.Ala960Aspfs*17

      CAID: CA232815

      SupplementalData:

      CaseInfo Individual CAID:CA232815 ClinGen ABCA4 Annotations hgnc_imputed:HGVS
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    pmc.ncbi.nlm.nih.gov/articles/PMC5749571/