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| Structural eye disease v0.76 | AGBL1 | Nicola Ragge reviewed gene: AGBL1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Corneal dystrophy, Fuchs endothelial, 8, 615523; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.46 | AGBL1 | Ivone Leong Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.46 | AGBL1 | Ivone Leong edited their review of gene: AGBL1: Added comment: Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). Late onset corneal dystrophy, no evidence for involvement in structural eye disease; Changed phenotypes: Corneal dystrophy, Fuchs endothelial, 8, 615523 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.39 | AGBL1 | Ivone Leong reviewed gene: AGBL1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Sengers syndrome, 212350, Cataract 38, autosomal recessive, 614691; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.13 | AGBL1 |
Ivone Leong gene: AGBL1 was added gene: AGBL1 was added to Structural eye disease. Sources: NHS GMS Mode of inheritance for gene: AGBL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: AGBL1 were set to Corneal dystrophy, Fuchs endothelial, 8, 615523 |
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