1. Genes and Genomic Entities
  2. NCDN

NCDN

neurochondrin
OMIM: 608458, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green NCDN in DDG2P


Version 6.447
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • NCDN-associated neurodevelopmental disorder with seizures (monoallelic)
    • NCDN-associated neurodevelopmental disorder with seizures (biallelic)
    Amber NCDN in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 8.166
    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 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Intellectual disability
    • epilepsy
    Green NCDN in Intellectual disability


    Level 2: Developmental disorders
    Version 9.343
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Intellectual disability
    • epilepsy