3 Matching Annotations
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  2. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Targeted sequencing and in vitro splice assays shed light on ABCA4-associated retinopathies missing heritability
    2
    1. Vibhor 26 Jul 2026
      able S9. List of unique causative variants detected in 858 STGD probands mmc8.xlsx (19.3KB, xlsx) Table S11. STGD1 cases with at least two (likely) causal ABCA4 variants

      Case#: DNAID 072884/Pat255, female

      DiseaseAssertion: STGD1

      FamilyInfo: n/a

      CasePresentingHPOs:

      CaseHPOFreeText: "In classic STGD1, loss of central vision starts around the second decade of life, but both early- and late-onset subtypes have been extensively described." No patient-specific details provided

      CaseNotHPOs:

      CaseNotHPOFreeText:

      GenotypingMethod: smMIPs sequencing of the complete ABCA4 locus

      PreviouslyPublished: n/a

      Variant: c.1519G>T (p.Asp507Tyr); c.5312+3A>T (p.Asn1734Glyfs*14) phase not confirmed

      CAID: CA958508

      SupplementalData: tables s9 and s11

      CAID:CA958508 CaseInfo Individual automated_hgnc:34 automated_hgnc_source:CAID ClinGen ABCA4 Annotations
    2. Vibhor 26 Jul 2026
      Table S9. List of unique causative variants detected in 858 STGD probands mmc8.xlsx (19.3KB, xlsx) Table S11. STGD1 cases with at least two (likely) causal ABCA4 variants mmc9.xlsx (39.6KB, xlsx)

      Case#: DNAID 072284/Pat191, female

      DiseaseAssertion: STGD1

      FamilyInfo: n/a

      CasePresentingHPOs:

      CaseHPOFreeText: "In classic STGD1, loss of central vision starts around the second decade of life, but both early- and late-onset subtypes have been extensively described." No patient-specific details provided

      CaseNotHPOs:

      CaseNotHPOFreeText:

      GenotypingMethod: smMIPs sequencing of the complete ABCA4 locus

      PreviouslyPublished: n/a

      Variant: c.1519G>T (p.Asp507Tyr); c.4139C>T (p.Pro1380Leu) phase not confirmed

      CAID: CA958508

      SupplementalData: tables s9 and s11

      CAID:CA958508 CaseInfo Individual SupplementalTable automated_hgnc:34 automated_hgnc_source:CAID ClinGen ABCA4 Annotations
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    pmc.ncbi.nlm.nih.gov/articles/PMC10534262/
  3. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    ABCA4 Gene Screening by Next-Generation Sequencing in a British Cohort
    1
    1. Vibhor 26 Jul 2026
      20 c.3208_3209insGT p.S1071fs DC c.1519G>T p.D507Y

      Case#: Fujinami Patient 20, British

      DiseaseAssertion: ABCA4-Related Retinal Disease

      FamilyInfo:

      CasePresentingHPOs:

      CaseHPOFreeText: Dx of ABCA4-associated retinal disease. At least localized low AF signal at the fovea surrounded by a homogeneous background, but no specific information provided

      CaseNotHPOs:

      CaseNotHPOFreeText:

      GenotypingMethod: ABCA4 microarray, PCR-enrichment–based next-generation sequencing (NGS) of ABCA4. Identified variants were confirmed by Sanger sequencing and assessed for pathogenicity by in silico analysis.

      PreviouslyPublished: n/a

      Variant: c.3208_3209insGT (p.S1071fs) ; c.1519G>T (p.D507Y) not confirmed in trans

      CAID: CA958508

      SupplementalData:

      CaseInfo Individual CAID:CA958508 automated_hgnc:34 automated_hgnc_source:CAID ClinGen ABCA4 Annotations
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    pmc.ncbi.nlm.nih.gov/articles/PMC3796939/