GNAT2

G protein subunit alpha transducin 2
OMIM: 139340, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Red GNAT2 in Glaucoma (developmental)

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.45

review Not set
Sources
  • NHS GMS
  • Emory Genetics Laboratory
Phenotypes
  • Eye Disorders
Green GNAT2 in Retinal disorders

Level 3: Posterior segment abnormalities
Level 2: Ophthalmological disorders
Version 5.4
Latest signed off version: v5.0 (1 May 2024)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Achromatopsia
  • Achromatopsia-4
  • Eye Disorders
  • Achromatopsia, Cone, and Cone-rod Dystrophy
Red GNAT2 in Structural eye disease


Version 3.79
Latest signed off version: v3.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Red
Phenotypes
  • Achromatopsia-4,613856
  • Eye Disorders