RP2

RP2, ARL3 GTPase activating protein
OMIM: 300757, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Red RP2 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 RP2 in Retinal disorders


Level 2: Ophthalmology
Version 8.116
Latest signed off version: v8.0 (30 Apr 2025)

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Retinitis pigmentosa 2
  • RP2-related X-linked Retinitis Pigmentosa
  • Eye Disorders
  • Retinitis pigmentosa
  • Retinitis pigmentosa 2, 312600
  • Retinitis Pigmentosa, X-linked
Red RP2 in Structural eye disease


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

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • NHS GMS
  • Expert Review Red
Phenotypes
  • Retinitis pigmentosa 2, 312600
  • Eye Disorders