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 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 4.12
Latest signed off version: v4.0 (22 Mar 2023)

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 - microarray and sequencing

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.536
Latest signed off version: v5.0 (22 Mar 2023)

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