UBAP1L

ubiquitin associated protein 1 like
Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Green UBAP1L in Mendeliome


Version 1.1902

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Cone-rod dystrophy (MONDO:0015993), UBAP1L-related

Green UBAP1L in Cone-rod Dystrophy


Level 2: Ophthalmological disorders
Version 0.54

Component of the following Super Panels:

  • Retinal Disorders Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Cone-rod dystrophy (MONDO:0015993), UBAP1L-related