1. Genes and Genomic Entities
  2. UBE3C

UBE3C

ubiquitin protein ligase E3C
OMIM: 614454, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Red UBE3C in DDG2P


Version 6.424
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Red
    Phenotypes
    • UBE3C-related neurodevelopmental disorder with absent speech and movement and behavioural abnormalities
    Amber UBE3C in Intellectual disability


    Level 2: Developmental disorders
    Version 9.285
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with absent speech and movement and behavioral abnormalities, OMIM:620270