4 Matching Annotations
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  2. link.springer.com link.springer.com
    Molecular diagnosis of putative Stargardt disease probands by exome sequencing
    4
    1. Vibhor 26 Jul 2026
      STGD-01

      Case#: Case1, Sex:Male, Age:19

      DiseaseAssertion: STGD

      FamilyInfo: n/a

      CasePresentingHPOs: n/a

      CaseHPOFreeText: Clinical Notes: Peripapillary sparing, discrete flecks; nummular atrophy. General notes: Panretinal cone dysfunction with preserved rod function was documented by ERG

      CaseNotHPOs:n/a

      CaseNotHPOFreeText: n/a

      Genotyping Method: Whole exome sequencing data generation. Additional sequencing targeted amplification fo PRPH2 and ELOVL4 using PCR.

      PreviouslyPublished: n/a

      Variant: Variant 1 given as p.N965S; NM_000350.3(ABCA4):c.2894A>G (p.Asn965Ser). Variant 2 given as p.R2038W; NM_000350.3(ABCA4):c.6112C>T (p.Arg2038Trp)

      ClinVar: Variation ID: 236096; Variation ID: 99430

      CAID: CA958124; CA227368

      SupplementalData: Proband variant information given in Table 1.

      Gene:ABCA4 HGNC:34 ClinVarID:236096 CAID:CA227368 PMID:22863181 DiseaseEntity:STGD1 InheritancePattern:AutosomalRecessive PeripapillarySparing SupplementalData automated_hgnc:34 automated_hgnc_source:hgnc_tag ClinGen ABCA4 Annotations
    2. Vibhor 26 Jul 2026
      STGD-06

      Case#: Case 6, Sex:Female, Age:34

      DiseaseAssertion: STGD

      FamilyInfo: n/a

      CasePresentingHPOs: n/a

      CaseHPOFreeText: Clinical Notes: Classic Stargardt. General notes: participant had classic features of STGD and field ERG showed abnormal cone responses with preserved rod function.

      CaseNotHPOs:n/a

      CaseNotHPOFreeText: n/a

      Genotyping Method: Exome sequencing data generation. Additional sequencing targeted amplification fo PRPH2 and ELOVL4 using PCR.

      PreviouslyPublished: n/a

      Variant: ABCA4, NM_000350.3(ABCA4):c.2966T>C (p.Val989Ala)

      ClinVar: Variation ID: 99180

      SupplementalData: Proband variant information given in Table 1.

      Gene:ABCA4 HGNC:34 PMID:22863181 ClinVarID:99180 DiseaseEntity:STGD1 InheritancePattern:AutosomalRecessive SupplementalData automated_hgnc:34 automated_hgnc_source:hgnc_tag ClinGen ABCA4 Annotations
    3. Vibhor 26 Jul 2026
      STGD-02

      Case#: Case2, Sex:Female, Age:15

      DiseaseAssertion: STGD

      FamilyInfo: n/a

      CasePresentingHPOs: n/a

      CaseHPOFreeText: Clinical Notes: Few yellowish Flecks without autofluorescence. General notes: participant presented with atypical macular degeneration.

      CaseNotHPOs:n/a

      CaseNotHPOFreeText: n/a

      Genotyping Method: Exome sequencing data generation. Additional sequencing targeted amplification fo PRPH2 and ELOVL4 using PCR.

      PreviouslyPublished: n/a

      Variant: Variant 1 given as p.G1961E; NM_000350.3:c.5882G>A p.(Gly1961Glu) . Variant 2 given as p.Q636X; NM_000350.3(ABCA4):c.1906C>T (p.Gln636Ter).

      ClinVar: Variation ID: 7888 ; Variation ID: 265012

      CAID: ; CA10588302

      SupplementalData: Proband variant information given in Table 1.

      Gene:ABCA4 HGNC:34 PMID:22863181 ClinVarID:265012 DiseaseEntity:STGD1 DiseaseEntity:ARMD2 InheritancePattern:AutosomalRecessive FundusAlbipunctatus SupplementalData automated_hgnc:34 automated_hgnc_source:hgnc_tag ClinGen ABCA4 Annotations
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    link.springer.com/article/10.1186/1471-2350-13-67