Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Corneal dystrophy v0.3 | COL8A2 | Morag Shanks reviewed gene: COL8A2: Rating: GREEN; Mode of pathogenicity: ; Publications: 11689488; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Corneal dystrophy v0.2 | COL8A2 |
Ivone Leong gene: COL8A2 was added gene: COL8A2 was added to Corneal dystrophies. Sources: Wessex and West Midlands GLH,Expert Review Green Mode of inheritance for gene: COL8A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: COL8A2 were set to 11689488 Phenotypes for gene: COL8A2 were set to Corneal dystrophy, Fuchs endothelial, 1 136800; Corneal dystrophy, posterior polymorphous 2 609140 |