1 Matching Annotations
  1. Last 7 days
  2. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Complex Inheritance of ABCA4 Disease: Four Mutations in a Family with Multiple Macular Phenotypes
    1
    1. Vibhor 26 Jul 2026
      The proband (II-1), a 43-year-old man

      Case#: 43-year old man, German descent, onset within first decade of life

      DiseaseAssertion: STGD1

      FamilyInfo: Family pedigree shown in Figure 1.

      CasePresentingHPOs: HP:0011463, HP:0000533, HP:0000580, HP:0030500, HP:0011507, HP:0000548, HP:0000510, HP:0007703, HP:0007663, HP:0000512, HP:0000610

      CaseHPOFreeText: Retinal vessels were visibly attenuated.

      CaseNotHPOs: n/a

      CaseNotHPOFreeText: Peripapillary region around the optic nerve had no disease related changes.

      Genotyping Method: Illumina MiSeq platform, Array-CGH analysis

      PreviouslyPublished: n/a

      Variant: NM_000350.3(ABCA4):c.161G>A (p.Cys54Tyr), NM_000350.3(ABCA4):c.4539+2028C>T

      ClinVar: 99065, 236116

      SupplementalData: n/a

      CaseInfo Individual DiseaseEntity:STGD1 MacularFlecks FamilyInfo Zygosity:CompoundHeterozygous InheritancePattern:AutosomalRecessive Funduscopy FundusAutofluorescence ClinVarID:99065 ClinVarID:236116 PigmentaryRetinopathyAttenuatedVessels MacularAtrophy DecreasedCentralVA PeripapillarySparing Chorioretinopathy DecreasedERGResponses automated_hgnc:1100 automated_hgnc_source:ClinVar ClinGen ABCA4 Annotations
    Visit annotations in context

    Tags

    Annotators

    URL

    pmc.ncbi.nlm.nih.gov/articles/PMC4699863/