Genomics England
GMS Panels
Panels
Genes and Entities

TGFBI

transforming growth factor beta induced
OMIM: 601692
PanelMode of inheritanceDetails
1 panel
Green
in Corneal dystrophy
R-numbers: R262
Signed-off version 3.2
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Corneal dystrophy, Groenouw type I 121900, Corneal dystrophy, Avellino type 607541, Corneal dystrophy, Thiel-Behnke type 602082, Corneal dystrophy, lattice type I 122200, Corneal dystrophy, Reis-Bucklers type 608470, Corneal dystrophy, epithelial basement membrane 121820, Corneal dystrophy, lattice type IIIA 608471