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 1.9

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 dystrophies


Version 1.6
Latest signed off version: v1.2 (19 Feb 2020)

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 1.83
Latest signed off version: v1.3 (4 Mar 2020)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
Phenotypes
  • Corneal dystrophy, Fuchs endothelial, 1, 136800
  • Corneal dystrophy, posterior polymorphous 2, 609140