UBAP1L

ubiquitin associated protein 1 like
Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel
Green UBAP1L in Retinal disorders


Level 2: Ophthalmology
Version 8.86
Latest signed off version: v8.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Literature
Phenotypes
  • Rod-cone dystrophy, HP:0000510
  • cone-rod dystrophy, MONDO:0015993
  • retinitis pigmentosa, MONDO:0019200
Tags
  • gene-checked