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| Structural eye disease v1.121 | COL18A1 | Sarah Leigh Phenotypes for gene: COL18A1 were changed from Knobloch syndrome, type 1, 267750 to Knobloch syndrome, type 1, OMIM:267750 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.120 | COL18A1 | Sarah Leigh Publications for gene: COL18A1 were set to 17546652; 22399687 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.76 | COL18A1 | Nicola Ragge reviewed gene: COL18A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 17546652, 22399687; Phenotypes: Knobloch syndrome, type 1, 267750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.49 | COL18A1 | Ivone Leong edited their review of gene: COL18A1: Changed phenotypes: Knobloch syndrome, type 1, 267750 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.39 | COL18A1 | Ivone Leong reviewed gene: COL18A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 17546652, 22399687; Phenotypes: Corneal dystrophy, Fuchs endothelial, 1, 136800, Corneal dystrophy, posterior polymorphous 2, 609140; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.13 | COL18A1 |
Ivone Leong gene: COL18A1 was added gene: COL18A1 was added to Structural eye disease. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: COL18A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COL18A1 were set to 17546652; 22399687 Phenotypes for gene: COL18A1 were set to Knobloch syndrome, type 1, 267750 |
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