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 1.39

review Not set
Sources
  • NHS GMS
  • Emory Genetics Laboratory
Phenotypes
  • Eye Disorders

Green PRPF31 in Retinal disorders

Level 3: Posterior segment abnormalities
Level 2: Ophthalmological disorders
Version 2.222
Latest signed off version: v2.195 (5 Aug 2021)

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


Version 1.83
Latest signed off version: v1.3 (4 Mar 2020)

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