1. Genes and Genomic Entities
  2. CCDC186

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 8.120
Latest signed off version: v8.0 (30 Apr 2025)

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 9.279
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • 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 1.31
    Latest signed off version: v1.0 (7 Aug 2024)

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