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  2. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Myosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1
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    1. ClingenBaseline 09 Nov 2026
      The proband of this large family with DA1 presented with bilateral clubfoot and camptodactyly with ulnar deviation of the fingers

      Case#: Proband and family; distal arthrogryposis phenotype; clinical case

      DiseaseAssertion: Distal arthrogryposis (DA); MYBPC1-related

      FamilyInfo: Two MYBPC1 variants segregate in the family. The paper provides the pedigree and segregation data.

      ParentalTesting: Not stated

      CasePresentingHPOs: HP:0002804

      CaseHPOFreeText: Distal arthrogryposis phenotype in affected family members, per the paper's clinical description.

      CaseNotHPOs: Not stated

      CasePreviousTesting: Clinical evaluation, genetic testing for MYBPC1.

      Genotyping Method: Genetic testing confirmed MYBPC1 variants; specific method in the paper.

      FunctionalAnalysis: Confirm whether a functional assay was performed.

      Variant: MYBPC1, two variants, specific nucleotide changes need confirmation from the paper

      ClinVar:N/A

      CAID:N/A

      gnomAD:N/A

      AdditionalInfo: N/A

      Gene:MYBPC1 HGNC:7549 InheritancePattern:AutosomalDominant DiseaseEntity:Other Variant:Missense Zygosity:Heterozygous UnregisteredVariant FamilyInfo inferred_gene_hgnc:7549 inferred_gene_source:hgnc_tag Cardiomyopathy Annotation
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    pmc.ncbi.nlm.nih.gov/articles/PMC2838534/