TSPAN12

tetraspanin 12
OMIM: 613138, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Red TSPAN12 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 TSPAN12 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 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Eye Disorders
  • Exudative vitreoretinopathy 5, OMIM:613310
Red TSPAN12 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
  • Exudative vitreoretinopathy 5, 613310
  • Eye Disorders