1. Genes and Genomic Entities
  2. UBE2A

UBE2A

ubiquitin conjugating enzyme E2 A
OMIM: 312180, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Red UBE2A in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.140
Latest signed off version: v6.0 (30 Apr 2025)

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • UBE2A-RELATED X-LINKED SYNDROMIC MENTAL RETARDATION
Green UBE2A in DDG2P


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

Component of the following Super Panels:

  • Paediatric disorders

    		•  review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • UBE2A-RELATED X-LINKED SYNDROMIC MENTAL RETARDATION 319562
    Green UBE2A in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 8.125
    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 X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • Victorian Clinical Genetics Services
    • UKGTN
    • Expert Review Green
    Phenotypes
    • Mental retardation, X-linked syndromic, Nascimento-type
    Green UBE2A 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 X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Emory Genetics Laboratory
    Phenotypes
    • Mental retardation, X-linked syndromic, Nascimento-type, 300860
    • UBE2A-RELATED X-LINKED SYNDROMIC MENTAL RETARDATION