PRPF31

pre-mRNA processing factor 31
OMIM: 606419, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Red PRPF31 in Glaucoma (developmental)

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.47

review Not set
Sources
  • NHS GMS
  • Emory Genetics Laboratory
Phenotypes
  • Eye Disorders
Green PRPF31 in Retinal disorders


Level 2: Ophthalmology
Version 8.103
Latest signed off version: v8.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Retinitis pigmentosa 11
  • Eye Disorders
  • Retinitis Pigmentosa, Dominant
  • Retinitis pigmentosa
  • Retinitis pigmentosa 11, 600138
Red PRPF31 in Structural eye disease


Level 2: Ophthalmology
Version 4.40
Latest signed off version: v4.0 (7 Aug 2024)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Red
Phenotypes
  • Retinitis pigmentosa 11, 600138
  • Eye Disorders