COL8A2

collagen type VIII alpha 2 chain
OMIM: 120252, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Green COL8A2 in Corneal Dystrophy


Level 2: Ophthalmological disorders
Version 1.10

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Corneal dystrophy, Fuchs endothelial, 1, MIM# 136800
  • Corneal dystrophy, posterior polymorphous 2, MIM# 609140

Green COL8A2 in Mendeliome


Version 1.1902

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Corneal dystrophy, Fuchs endothelial, 1, MIM# 136800
  • Corneal dystrophy, posterior polymorphous 2, MIM# 609140