UBE3B

ubiquitin protein ligase E3B
OMIM: 608047, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Amber UBE3B in Limb disorders


Level 2: Musculoskeletal
Version 8.7
Latest signed off version: v8.0 (6 May 2026)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Victorian Clinical Genetics Services
    Phenotypes
    • Kaufman oculocerebrofacial syndrome 244450
    • Polydactyly
    Green UBE3B in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 7.10
    Latest signed off version: v7.0 (6 May 2026)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • BLEPHAROPHIMOSIS-MENTAL RETARDATION
    Green UBE3B in DDG2P


    Version 7.1
    Latest signed off version: v7.0 (6 May 2026)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • BLEPHAROPHIMOSIS-MENTAL RETARDATION 615057
    Amber UBE3B in Clefting


    Level 2: Musculoskeletal
    Version 7.5
    Latest signed off version: v7.0 (6 May 2026)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Kaufman oculocerebrofacial syndrome, OMIM:244450
    Green UBE3B in Intellectual disability


    Level 2: Developmental disorders
    Version 10.18
    Latest signed off version: v10.0 (6 May 2026)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • BLEPHAROPHIMOSIS-MENTAL RETARDATION