Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Corneal dystrophy v0.3 | SLC4A11 | Morag Shanks reviewed gene: SLC4A11: Rating: GREEN; Mode of pathogenicity: ; Publications: 16767101, 16825429; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Corneal dystrophy v0.2 | SLC4A11 |
Ivone Leong gene: SLC4A11 was added gene: SLC4A11 was added to Corneal dystrophies. Sources: Wessex and West Midlands GLH,Expert Review Green Mode of inheritance for gene: SLC4A11 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC4A11 were set to 16767101; 16825429 Phenotypes for gene: SLC4A11 were set to Corneal dystrophy, Fuchs endothelial, 4 613268; Corneal endothelial dystrophy and perceptive deafness 217400; Corneal endothelial dystrophy, autosomal recessive 217700 |