1. Genes and Genomic Entities
  2. CRBN

CRBN

cereblon
OMIM: 609262, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Red CRBN in DDG2P


Version 4.3
Latest signed off version: v4.0 (1 May 2024)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Red
    Phenotypes
    • MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 2A 607417
    Amber CRBN in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 6.9
    Latest signed off version: v6.0 (1 May 2024)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Victorian Clinical Genetics Services
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Mental retardation, autosomal recessive 2 607417
    Tags
    • watchlist