PRPH2

peripherin 2
OMIM: 179605, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Red PRPH2 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 PRPH2 in Retinal disorders


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

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Eligibility statement prior genetic testing
  • Expert Review Green
Red PRPH2 in Structural eye disease


Level 2: Ophthalmology
Version 4.37
Latest signed off version: v4.0 (7 Aug 2024)

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Red
Phenotypes
  • Retinitis punctata albescens, 136880
  • Leber congenital amaurosis 18, 608133
  • Macular dystrophy, patterned, 1, 169150
  • Eye Disorders
  • Macular dystrophy, vitelliform, 3, 608161
  • Choriodal dystrophy, central areolar 2, 613105