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 1.42

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

Green RP2 in Retinal disorders

Level 3: Posterior segment abnormalities
Level 2: Ophthalmological disorders
Version 2.285
Latest signed off version: v2.195 (5 Aug 2021)

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


Version 1.132
Latest signed off version: v1.3 (4 Mar 2020)

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