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| Structural eye disease v0.76 | TGFBI | Nicola Ragge reviewed gene: TGFBI: Rating: RED; Mode of pathogenicity: ; Publications: ; 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; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.49 | TGFBI | Ivone Leong edited their review of gene: TGFBI: Changed 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.39 | TGFBI | Ivone Leong reviewed gene: TGFBI: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Microphthalmia, coloboma, micrognathia, diaphragmatic hernia, None; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.13 | TGFBI |
Ivone Leong 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 |
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