CNPY3

canopy FGF signaling regulator 3
OMIM: 610774, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green CNPY3 in DDG2P


Version 8.1
Latest signed off version: v8.0 (12 Aug 2026)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • EARLY ONSET EPILEPTIC ENCEPHALOPATHY
    Green CNPY3 in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 9.68
    Latest signed off version: v9.56 (12 Aug 2026)

    Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Wessex and West Midlands GLH
    • NHS GMS
    • Victorian Clinical Genetics Services
    Phenotypes
    • Epileptic encephalopathy, early infantile, 60 617929
    Amber CNPY3 in Intellectual disability


    Level 2: Developmental disorders
    Version 11.9
    Latest signed off version: v11.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Hypotonic infant
  • Leukodystrophy, childhood onset
  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Epileptic encephalopathy, early infantile, 60 (MIM 617929)