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  2. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations
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    1. ClingenBaseline 24 Oct 2026
      Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations

      PMID:

      Gene: OPA1

      Disease: hereditary optic neuropathy

      980 patients in this study with suspected hereditary optic neuropathies were evaluated by searching for the ten primary LHON-causing mtDNA mutations and examining the entire coding sequences of the OPA1 and OPA3 genes. 295 had variants in OPA1; however the exact count for this variant was not provided and neither was any additional phenotypic information.

      ClinGen General OPA1 InsufficientEvidence Variant:1800C>G CAID:CA10575554 inferred_gene_hgnc:8140 inferred_gene_source:CAID UNC Biocuration Core
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    pubmed.ncbi.nlm.nih.gov/19319978/