CCDC186

coiled-coil domain containing 186
Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Red CCDC186 in Early onset or syndromic epilepsy


Level 2: Neurology
Version 9.74
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 Red
    • Literature
    Phenotypes
    • Epileptic encephalopathy
    Tags
    • watchlist
    Amber CCDC186 in Intellectual disability


    Level 2: Developmental disorders
    Version 11.28
    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
    • failure to thrive and developmental delay
    Tags
    • watchlist
    Amber CCDC186 in Monogenic short stature


    Level 2: Endocrinology
    Version 2.9
    Latest signed off version: v2.8 (12 Aug 2026)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Literature
    • Expert Review Amber
    Phenotypes
    • failure to thrive and developmental delay
    Tags
    • watchlist