1. Genes and Genomic Entities
  2. PRTFDC1

PRTFDC1

phosphoribosyl transferase domain containing 1
OMIM: 610751, Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel
Red PRTFDC1 in Retinal disorders

Level 3: Posterior segment abnormalities
Level 2: Ophthalmological disorders
Version 5.4
Latest signed off version: v5.0 (1 May 2024)

review Not set
Sources
  • NHS GMS
  • Literature
Phenotypes
  • Retinitis pigmentosa