RAX2

retina and anterior neural fold homeobox 2
OMIM: 610362, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Red RAX2 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 RAX2 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 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Achromatopsia, Cone, and Cone-rod Dystrophy
  • Macular Degeneration
  • Eye Disorders
  • Cone-Rod Dystrophy, Dominant
  • Cone-rod dystrophy 11

Red RAX2 in Structural eye disease


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

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Red
Phenotypes
  • Macular degeneration, age-related, 6, 613757
  • Cone-rod dystrophy 11, 610381
  • Eye Disorders