GUCA1A

guanylate cyclase activator 1A
OMIM: 600364, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Red GUCA1A 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 GUCA1A in Retinal disorders

Level 3: Posterior segment abnormalities
Level 2: Ophthalmological disorders
Version 4.71
Latest signed off version: v4.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Cone dystrophy-3, 602093
  • Eye Disorders
  • Achromatopsia, Cone, and Cone-rod Dystrophy
Red GUCA1A in Structural eye disease


Version 3.74
Latest signed off version: v3.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Red
Phenotypes
  • Cone dystrophy-3, 602093
  • Eye Disorders