19 Matching Annotations
  1. Oct 2026
  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    A screen for proteins that interact with PAX6: C-terminal mutations disrupt interaction with HOMER3, DNCL1 and TRIM11
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC1208879/
  3. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Foveal Hypoplasia Grading in 95 Cases of Congenital Aniridia: Correlation to Phenotype and PAX6 Genotype
    1
    1. ClingenBaseline 24 Oct 2026
      Foveal Hypoplasia Grading in 95 Cases of Congenital Aniridia: Correlation to Phenotype and PAX6 Genotype

      PMID: 34942114

      Variant NM_001368894.2:c.136C>G(p.Leu46Val)

      Gene: PAX6

      Disease: Ocular dysgenesis

      InheritancePattern: AD

      Notes Pub presents a variant with a diff AA change at position 46, p.L46Q vs the variant being curated which is p.L46V

      ClinGen VariantCuration Gene:PAX6 inferred_gene_hgnc:8620 inferred_gene_source:Gene_Name UNC Biocuration Core
    Visit annotations in context

    Tags

    Annotators

    URL

    pubmed.ncbi.nlm.nih.gov/34942114/
  4. academic-oup-com.libproxy.lib.unc.edu academic-oup-com.libproxy.lib.unc.edu
    Missense mutation at the C-terminus of PAX6 negatively modulates homeodomain function
    1
    1. ClingenBaseline 24 Oct 2026
      Missense mutation at the C-terminus of PAX6 negatively modulates homeodomain function

      PMID: 11309364

      Variant p.Q422R and p.P375Q

      Gene: PAX6

      Disease: Ocular dysgenesis

      InheritancePattern: AD

      Notes both p.q422R and p.P375Q had lower transcriptional activation of HD targeted sequences and lost binding to homeobox domain sequences in EMSA assay showing that the AA substitution constituted a loss of function for DNA binding with the homeobox DNA binding domain. Proband was positve for aniridia, foveal hypoplasia and cataracts in a 3yo girl.

      Gene:PAX6 ClinGen VariantCuration inferred_gene_hgnc:8620 inferred_gene_source:Gene_Name UNC Biocuration Core
    Visit annotations in context

    Tags

    Annotators

    URL

    academic-oup-com.libproxy.lib.unc.edu/hmg/article/10/9/911/2901585
  5. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Three new PAX6 mutations including one causing an unusual ophthalmic phenotype associated with neurodevelopmental abnormalities
    2
    2. ClingenBaseline 23 Oct 2026
      In isolated case D

      CaseID D

      VariantInPub IVS2+9G>A

      MANE NM_001368894.2:c.-129+9G>A

      Zygosity heterozygous

      PhenotypesProband HP:0000568, HP:0000482, HP:0000518, HP:0000639, HP:0000647, HP:0000491

      FamilyInfo No family or segregation information was included

      SpliceFormVariant No RT-PCR or northern blot to confirm the intronic substitution lead to a splice variant

      VariantCaseInfo Gene:PAX6 inferred_gene_hgnc:8620 inferred_gene_source:Gene_Name UNC Biocuration Core
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC2649307/
  6. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Activation of cryptic donor splice sites by non-coding and coding PAX6 variants contributes to congenital aniridia
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    pubmed.ncbi.nlm.nih.gov/33782094/
  7. www-clinicalkey-com.libproxy.lib.unc.edu www-clinicalkey-com.libproxy.lib.unc.edu
    Clinical characteristics of 30 Czech families with long QT syndrome and KCNQ1 and KCNH2 gene mutations: importance of exercise testing - ClinicalKey
    1
    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
    Visit annotations in context

    Tags

    Annotators

    URL

    www-clinicalkey-com.libproxy.lib.unc.edu/
  8. link-springer-com.libproxy.lib.unc.edu link-springer-com.libproxy.lib.unc.edu
    Implication of non-coding PAX6 mutations in aniridia
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    link-springer-com.libproxy.lib.unc.edu/article/10.1007/s00439-018-1940-x
  9. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Dissection of the transactivation function of the transcription factor encoded by the eye developmental gene PAX6
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    pubmed.ncbi.nlm.nih.gov/9516413/
  10. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Molecular analysis of the PAX6 gene in Mexican patients with congenital aniridia: report of four novel mutations
    2
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC2530489/
  11. onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
    Molecular analysis of patients with aniridia in Russian Federation broadens the spectrum of PAX6 mutations
    1
    1. ClingenBaseline 22 Oct 2026
      Molecular analysis of patients with aniridia in Russian Federation broadens the spectrum of PAX6 mutations T.A. Vasilyeva,  T.A. Vasilyeva Federal State Budgetary Institution ‘Research Center for Medical Genetics’, Moscow, Russian FederationSearch for more papers by this authorA.A. Voskresenskaya,  A.A. Voskresenskaya Department of Ambulant Surgery and Conservative Treatment, Cheboksary Branch of S. Fyodorov Eye Microsurgery Federal State Institution, Cheboksary, Russian FederationSearch for more papers by this authorB. Käsmann-Kellner,  B. Käsmann-Kellner German Aniridia Center at the Section of Pediatric Ophthalmology, Orthoptics, Low Vision & Neuroophthalmology, Department of Ophthalmology, Saarland University Homburg/Saar, GermanySearch for more papers by this authorO.V. Khlebnikova,  O.V. Khlebnikova Federal State Budgetary Institution ‘Research Center for Medical Genetics’, Moscow, Russian FederationSearch for more papers by this authorN.A. Pozdeyeva,  N.A. Pozdeyeva Department of Ambulant Surgery and Conservative Treatment, Cheboksary Branch of S. Fyodorov Eye Microsurgery Federal State Institution, Cheboksary, Russian FederationSearch for more papers by this authorG.M. Bayazutdinova,  G.M. Bayazutdinova Federal State Budgetary Institution ‘Research Center for Medical Genetics’, Moscow, Russian FederationSearch for more papers by this authorS.I. Kutsev,  S.I. Kutsev Federal State Budgetary Institution ‘Research Center for Medical Genetics’, Moscow, Russian Federation Department of Molecular and Cell Genetics, Pirogov Russian National Research Medical University, Moscow, Russian FederationSearch for more papers by this authorE.K. Ginter,  E.K. Ginter Federal State Budgetary Institution ‘Research Center for Medical Genetics’, Moscow, Russian FederationSearch for more papers by this authorE.V. Semina,  E.V. Semina Division of Developmental Biology, Department of Pediatrics, Medical College of Wisconsin, Milwaukee, WisconsinSearch for more papers by this authorA.V. Marakhonov,  Corresponding Author A.V. Marakhonov marakhonov@generesearch.ru orcid.org/0000-0002-0972-5118 Federal State Budgetary Institution ‘Research Center for Medical Genetics’, Moscow, Russian Federation Laboratory of Functional Analysis of the Genome, Moscow Institute of Physics and Technology (State University), Dolgoprudny, Moscow Region, Russian Federation Correspondence Rena A. Zinchenko, Andrey V. Marakhonov, Federal State Budgetary Institution ‘Research Center for Medical Genetics’, Moskvorechie Street, 1, 115478 Moscow, Russian Federation. Email: renazinchenko@mail.ru, marakhonov@generesearch.ruSearch for more papers by this authorR.A. Zinchenko,  Corresponding Author R.A. Zinchenko renazinchenko@mail.ru Federal State Budgetary Institution ‘Research Center for Medical Genetics’, Moscow, Russian Federation Department of Molecular and Cell Genetics, Pirogov Russian National Research Medical University, Moscow, Russian Federation Correspondence Rena A. Zinchenko, Andrey V. Marakhonov, Federal State Budgetary Institution ‘Research Center for Medical Genetics’, Moskvorechie Street, 1, 115478 Moscow, Russian Federation. Email: renazinchenko@mail.ru, marakhonov@generesearch.ruSearch for more papers by this author

      PMID 28321846

      Gene: PAX6

      Variant NM_001368894.2:c.-128-2del

      Disease: Ocular dysgenesis

      InheritancePattern: AD

      Disease PAX6-related ocular dysgenesis MONDO:0800183

      Proband 26.03 and apparently de novo

      Gene:PAX6 Variant c.-128-2del ClinGen c.1268A>T c.1310A>T inferred_gene_hgnc:8620 inferred_gene_source:Gene_Name UNC Biocuration Core
    Visit annotations in context

    Tags

    Annotators

    URL

    onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/full/10.1111/cge.13019
  12. onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
    Genetic analysis of chromosome 11p13 and the PAX6 gene in a series of 125 cases referred with aniridia
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/full/10.1002/ajmg.a.32209
  13. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Extension of the mutation spectrum of PAX6 from three Chinese congenital aniridia families and identification of male gonadal mosaicism
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC6305634/
  14. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    A new PAX6 mutation in familial aniridia
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    pubmed.ncbi.nlm.nih.gov/7666404/
  15. www-sciencedirect-com.libproxy.lib.unc.edu www-sciencedirect-com.libproxy.lib.unc.edu
    A novel missense mutation (Leu46Val) of PAX6 found in an autistic patient
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    www-sciencedirect-com.libproxy.lib.unc.edu/science/article/pii/S0304394009009392
  16. onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
    A novel deletion (IVS11+3del4) identified in the human PAX6 gene in a patient with aniridia
    1
    1. ClingenBaseline 21 Oct 2026
      A novel deletion (IVS11+3del4) identified in the human PAX6 gene in a patient with aniridia

      PMID:

      Gene: PAX6

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

      Disease: Ocular dysgenesis

      InheritancePattern: AD

      Notes In Table 1. and Figure 3 there are nice illustrations of the consequences of this variant leading to a 27bp truncation in exon 6, in frame, which causes an AA deletion p.Cys112_Val120del version of PAX6. No patient phenotype data is available.

      VariantCuration ClinGen Gene:PAX6 inferred_gene_hgnc:8620 inferred_gene_source:Gene_Name UNC Biocuration Core
    Visit annotations in context

    Tags

    Annotators

    URL

    onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/abs/10.1002/1098-1004(200006)15:6<582::AID-HUMU19>3.0.CO
  17. www-sciencedirect-com.libproxy.lib.unc.edu www-sciencedirect-com.libproxy.lib.unc.edu
    Mutation profiles and clinical characteristics of Chinese males with isolated hypogonadotropic hypogonadism
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    www-sciencedirect-com.libproxy.lib.unc.edu/science/article/pii/S0015028218303352
  18. academic-oup-com.libproxy.lib.unc.edu academic-oup-com.libproxy.lib.unc.edu
    Statistical features of human exons and their flanking regions
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    academic-oup-com.libproxy.lib.unc.edu/hmg/article/7/5/919/759675