1. Genes and Genomic Entities
  2. UBE2U

UBE2U

ubiquitin conjugating enzyme E2 U (putative)
Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Red UBE2U in Bilateral congenital or childhood onset cataracts


Level 2: Ophthalmology
Version 7.6
Latest signed off version: v7.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
  • Expert Review Red
Phenotypes
  • Retinoschisis, MONDO:0004579
  • cataracts
  • learning disability, MONDO:0004681
  • developmental delay
Red UBE2U 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 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • Retinoschisis, MONDO:0004579
    • cataracts
    • learning disability, MONDO:0004681
    • developmental delay