1. Genes and Genomic Entities
  2. CCDC78

CCDC78

coiled-coil domain containing 78
OMIM: 614666, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Red CCDC78 in Arthrogryposis


Level 2: Neurology
Version 10.17
Latest signed off version: v10.16 (12 Aug 2026)

review Not set
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • Expert
  • Expert list
Phenotypes
  • Myopathy, centronuclear, 4, 614807
Amber CCDC78 in Congenital myopathy


Level 2: Neurology
Version 7.78
Latest signed off version: v7.77 (12 Aug 2026)

Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • NHS GMS
    • London South GLH
    • Expert
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Centronuclear myopathy 4, OMIM:614807
    • Centronuclear myopathy 4, MONDO:0013890
    Amber CCDC78 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 8.1
    Latest signed off version: v8.0 (12 Aug 2026)

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • CONGENITAL MYOPATHY WITH PROMINENT INTERNAL NUCLEI AND ATYPICAL CORES
    Red CCDC78 in DDG2P


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

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • DD-Gene2Phenotype
    Phenotypes
    • CONGENITAL MYOPATHY WITH PROMINENT INTERNAL NUCLEI AND ATYPICAL CORES 614807
    Red CCDC78 in Intellectual disability


    Level 2: Developmental disorders
    Version 11.1
    Latest signed off version: v11.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Hypotonic infant
  • Leukodystrophy, childhood onset
  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • ?Centronuclear myopathy 4 614807