Structural eye disease
Gene: TGFBI
corneal dystrophy gene, no evidence for involvement in structural eye diseaseCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Corneal dystrophy, epithelial basement membrane; Corneal dystrophy, Groenouw type I; Corneal dystrophy, lattice type I; Corneal dystrophy, Thiel-Behnke type; Corneal dystrophy, Avellino type; Corneal dystrophy, Reis-Bucklers type; Corneal dystrophy, lattice type IIIA; 121820; 121900; 122200; 602082; 607541; 608470; 608471
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). corneal dystrophy gene, no evidence for involvement in structural eye diseaseCreated: 17 Apr 2019, 3:31 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Corneal dystrophy, epithelial basement membrane; Corneal dystrophy, Groenouw type I; Corneal dystrophy, lattice type I; Corneal dystrophy, Thiel-Behnke type; Corneal dystrophy, Avellino type; Corneal dystrophy, Reis-Bucklers type; Corneal dystrophy, lattice type IIIA; 121820; 121900; 122200; 602082; 607541; 608470; 608471
gene: TGFBI was added gene: TGFBI was added to Structural eye disease. Sources: NHS GMS Mode of inheritance for gene: TGFBI was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TGFBI were set to 607541; Corneal dystrophy, lattice type IIIA; 608470; Corneal dystrophy, lattice type I; 122200; Corneal dystrophy, Reis-Bucklers type; 121900; Corneal dystrophy, Groenouw type I; Corneal dystrophy, epithelial basement membrane; 608471; Corneal dystrophy, Avellino type; 121820; Corneal dystrophy, Thiel-Behnke type; 602082