1. Genes and Genomic Entities
  2. CCDC47

CCDC47

coiled-coil domain containing 47
Gene2Phenotype

4 panels

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

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.31
Latest signed off version: v5.0 (22 Mar 2023)

review Not set
Sources
  • Expert Review Red
Tags
  • gene-checked
Green CCDC47 in DDG2P


Version 3.88
Latest signed off version: v3.1 (22 Mar 2023)

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 - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.544
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Woolly hair
    • Abnormality of the liver
    • Global developmental delay
    • Intellectual disability
    • Trichohepatoneurodevelopmental syndrome, 618268
    Tags
    • gene-checked
    Green CCDC47 in Severe Paediatric Disorders


    Version 1.184

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Trichohepatoneurodevelopmental syndrome, 618268
    Tags
    • gene-checked