3 Matching Annotations
  1. Last 7 days
  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
      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 071549/Pat23, male

      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.6416G>C (p.Arg2139Pro); c.1648G>A (p.Gly550Arg)

      CAID: CA10611614

      SupplementalData: tables s9 and s11

      CAID:CA10611614 CaseInfo Individual SupplementalTable 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 072888/Pat258, 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.6416G>C (p.Arg2139Pro); c.3323G>A (p.Arg1108His)

      CAID: CA10611614

      SupplementalData: tables s9 and s11

      CAID:CA10611614 CaseInfo Individual SupplementalTable automated_hgnc:34 automated_hgnc_source:CAID ClinGen ABCA4 Annotations
    Visit annotations in context

    Tags

    Annotators

    URL

    pmc.ncbi.nlm.nih.gov/articles/PMC10534262/
  3. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Clinically Focused Molecular Investigation of 1000 Consecutive Families with Inherited Retinal Disease
    1
    1. Vibhor 26 Jul 2026
      Four hundred eighty-nine were female and 511 were male. The average age at entry into the study was 37.3 years (36.3 years for males and 38.5 years for females); the range was 8 months to 88 years. Plausible disease-causing genotypes were identified in 760 of these probands, 393 males and 367 females (Supplemental Table 1). The average age at entry into the study was very slightly younger for those in whom a disease-causing genotype was identified (34.9 years for males and 37.7 years for females).

      Case#: Patient 721, male, 41yo at entry

      DiseaseAssertion: Stargardt disease

      FamilyInfo:

      CasePresentingHPOs:

      CaseHPOFreeText: category IIA (autosomal recessive stargardt disease)

      CaseNotHPOs:

      CaseNotHPOFreeText:

      GenotypingMethod: one or more of the following approaches: automated Sanger sequencing with an ABI 3730xl sequencer, allele-specific genotyping with a Fluidigm EP1, amplification refractory mutation system (ARMS 17), chromosomal microarray analysis, and/or plasmid cloning of PCR products followed by Sanger sequencing. WES, WGS

      PreviouslyPublished: n/a

      Variant: c.6416G>C p.Arg2139Pro; c.2588G>C p.Gly863Ala. confirmed in trans

      CAID: CA10611614

      SupplementalData: supplemental table 1

      CAID:CA10611614 CaseInfo Individual SupplementalTable automated_hgnc:34 automated_hgnc_source:CAID ClinGen ABCA4 Annotations
    Visit annotations in context

    Tags

    Annotators

    URL

    pmc.ncbi.nlm.nih.gov/articles/PMC5565704/