COL8A2

collagen type VIII alpha 2 chain
OMIM: 120252, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green COL8A2 in Corneal abnormalities

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.13

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • GDL Corneal Abnormalities panel
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Corneal dystrophy, Fuchs endothelial, 1, 136800
  • early onset fuchs endothelial corneal dystrophy
Green COL8A2 in Corneal dystrophy


Version 3.10
Latest signed off version: v3.2 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Wessex and West Midlands GLH
Phenotypes
  • Corneal dystrophy, Fuchs endothelial, 1 136800
  • Corneal dystrophy, posterior polymorphous 2 609140
Red COL8A2 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
Phenotypes
  • Corneal dystrophy, Fuchs endothelial, 1, 136800
  • Corneal dystrophy, posterior polymorphous 2, 609140