COL8A2:Ensemblv90

collagen type VIII alpha 2 chain
OMIM: 120252, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green COL8A2 in Corneal Dystrophy


Level 2: Ophthalmological disorders
Version 1.13

1 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 1.3802

1 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 Corneal Dystrophy


Level 2: Ophthalmological disorders
Version 2.0

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