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| Structural eye disease v0.76 | COL8A2 | Nicola Ragge reviewed gene: COL8A2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Corneal dystrophy, Fuchs endothelial, 1, Corneal dystrophy, posterior polymorphous 2, 136800, 609140; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.49 | COL8A2 | Ivone Leong edited their review of gene: COL8A2: Changed phenotypes: Corneal dystrophy, Fuchs endothelial, 1, Corneal dystrophy, posterior polymorphous 2, 136800, 609140 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.39 | COL8A2 | Ivone Leong reviewed gene: COL8A2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Macrophthalmia, Colobomatous, with microcornea, 602499; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.13 | COL8A2 |
Ivone Leong gene: COL8A2 was added gene: COL8A2 was added to Structural eye disease. Sources: NHS GMS Mode of inheritance for gene: COL8A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: COL8A2 were set to Corneal dystrophy, Fuchs endothelial, 1, 136800; Corneal dystrophy, posterior polymorphous 2, 609140 |
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