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    Clinical characteristics of 30 Czech families with long QT syndrome and KCNQ1 and KCNH2 gene mutations: importance of exercise testing - ClinicalKey
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    1. ClingenBaseline 23 Oct 2026
      Screening of a large PAX6 cohort identified many novel variants and emphasises the importance of the paired and homeobox domains

      PMID: 32360764

      Variant NM_000280.5:c.333C>A(p.Val111=)

      Gene: PAX6

      Disease: Ocular dysgenesis

      InheritancePattern: AD

      Notes Proband with confirmed aniridia and confirmed de novo appearance of the variant, summary in table 1, proband information in the "splice variant" section. It is noted however that the authors do not include the parental genotype or phenotype data.

      Clinical Lab The Wessex Regional Genetics Laboratory has been contacted for variants c.333C>A and c.1183G>C, there is no additional information than what is in the table and if familial or de novo is claimed it is because parental samples were collected and tested negative for the variant in the published proband

      VariantCaseInfo VariantCuration ClinGen Gene:PAX6 NM_000280.5:c.333C>A(p.Val111=) ClinicalLab WessexRegional inferred_gene_hgnc:8620 inferred_gene_source:Gene_Name UNC Biocuration Core
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