1. Genes and Genomic Entities
  2. CCDC47

CCDC47

coiled-coil domain containing 47
Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Red CCDC47 in Arthrogryposis


Level 2: Neurology
Version 10.20
Latest signed off version: v10.16 (12 Aug 2026)

review Not set
Sources
  • Expert Review Red
Phenotypes
  • Trichohepatoneurodevelopmental syndrome, OMIM:618268
Tags
  • gene-checked
Green CCDC47 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
    • Woolly Hair Liver Dysfunction Dysmorphic Features and Global Developmental Delay
    Tags
    • gene-checked
    Green CCDC47 in Intellectual disability


    Level 2: Developmental disorders
    Version 11.17
    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 Green
    • Literature
    Phenotypes
    • Trichohepatoneurodevelopmental syndrome, OMIM:618268
    Tags
    • gene-checked