XXYLT1

xyloside xylosyltransferase 1
OMIM: 614552, Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel
Amber XXYLT1 in Retinal disorders


Level 2: Ophthalmology
Version 9.13
Latest signed off version: v9.0 (6 May 2026)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Cone-rod dystrophy, MONDO:0015993
  • Inherited retinal dystrophy, MONDO:0019118
Tags
  • watchlist