GNAT1

G protein subunit alpha transducin 1
OMIM: 139330, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Red GNAT1 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 GNAT1 in Retinal disorders

Level 3: Posterior segment abnormalities
Level 2: Ophthalmological disorders
Version 4.83
Latest signed off version: v4.0 (22 Mar 2023)

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Congenital Stationary Night Blindness
  • Night blindness, congenital stationary, autosomal dominant 3, 610444
Red GNAT1 in Structural eye disease


Version 3.77
Latest signed off version: v3.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Red
Phenotypes
  • ?Night blindness, congenital stationary, type 1G, 616389
  • Night blindness, congenital stationary, autosomal dominant 3, 610444
  • Eye Disorders