UBE2U

ubiquitin conjugating enzyme E2 U (putative)
Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Red UBE2U in Cataract


Level 2: Ophthalmological disorders
Version 0.366

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Retinoschisis
  • cataracts
  • learning disabilities
  • developmental delay

Red UBE2U in Mendeliome


Version 1.1891

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Retinoschisis
  • cataracts
  • learning disabilities
  • developmental delay

Red UBE2U in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 0.6063

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Retinoschisis
  • cataracts
  • learning disabilities
  • developmental delay