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  1. Last 7 days
  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Dependable and Efficient Clinical Molecular Diagnosis of Chinese RP Patient with Targeted Exon Sequencing
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC4619688/
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    Whole Exome Analysis Identifies Frequent CNGA1 Mutations in Japanese Population with Autosomal Recessive Retinitis Pigmentosa
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    ncbi.nlm.nih.gov/pmc/articles/PMC4182560/
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    Novel compound heterozygous mutations in CNGA1in a Chinese family affected with autosomal recessive retinitis pigmentosa by targeted sequencing
    1
    1. ClingenBaseline 22 Oct 2026
      Fig. 1

      Case# Wang II:3, male, Chinese

      CasePresentingHPOs HP:0007675, HP:0001123, HP:0000543, HP:0000572, HP:0007737, HP:0031609, HP:0008043

      CaseMethod1 PCR

      CaseGenotypingMethod genes related to opthalmological diseases

      Variant NM_000087.3(CNGA1):c.265delC (p.Leu89Phefs) and novel "p.Y82X"

      ClinVar (1st) 225315 link

      CAID (2nd) CA356834547 link

      gnomAD 0.001378 link

      Case CaseInfo Individual inferred_gene_hgnc:2148 inferred_gene_source:RefSeq UNC Biocuration Core
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    ncbi.nlm.nih.gov/pmc/articles/PMC4938971/
  5. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Novel compound heterozygous mutation in the CNGA1 gene underlie autosomal recessive retinitis pigmentosa in a Chinese family
    1
    1. ClingenBaseline 22 Oct 2026
      II:6

      Case# Xin II:6, Female, 42, Chinese

      CasePresentingHPOs HP:0007663, HP:0007675, HP:0001133

      CaseMethod1 Sanger Sequencing

      CaseGenotypingMethod NGS

      Variant NM_000087.3(CNGA1):c.265delC (p.Leu89Phefs), NM_000087.3(CNGA1)c.1537G>A(p.G513R)

      ClinVar 225315(1st)

      CAID CA2911062(2nd)

      VariantEvidence p. G513R protein localized to cytoplasm instead of plasma membrane like wildtype (fig. 3)

      Case CaseInfo Individual inferred_gene_hgnc:2148 inferred_gene_source:RefSeq UNC Biocuration Core
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    ncbi.nlm.nih.gov/pmc/articles/PMC4725244/
  6. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Homozygosity Mapping and Targeted Sanger Sequencing Reveal Genetic Defects Underlying Inherited Retinal Disease in Families from Pakistan
    1
    1. ClingenBaseline 22 Oct 2026
      family F08

      Family#PresentingHPOs HP:0007994, HP:0007675

      CountryOrigin Pakistan

      Ethnicity NonHispanic/Latino

      Race White

      Family#PreviousTesting

      Family#Method1 WES

      Family#Method2 Sanger

      Family#GenotypingMethod Sanger of IRD associated genes, SNP array analysis

      Affected 3

      Unaffected 3

      Segregations 3

      eLOD 1.50

      ProbandLabel Maleeha 2:1, Female, White

      Variant NM_000087.3(CNGA1):c.1298G>A(p.G433D)

      CAID CA2911103

      gnomAD 0.000008974 link

      Case Family FamilyInfo inferred_gene_hgnc:2148 inferred_gene_source:RefSeq UNC Biocuration Core
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    ncbi.nlm.nih.gov/pmc/articles/PMC4361598/