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| Structural eye disease v0.76 | EPG5 | Nicola Ragge reviewed gene: EPG5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Vici syndrome, 242840; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.49 | EPG5 | Ivone Leong edited their review of gene: EPG5: Changed phenotypes: Vici syndrome, 242840 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.39 | EPG5 | Ivone Leong reviewed gene: EPG5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cataract 6, multiple types, 116600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.13 | EPG5 |
Ivone Leong gene: EPG5 was added gene: EPG5 was added to Structural eye disease. Sources: NHS GMS Mode of inheritance for gene: EPG5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EPG5 were set to Vici syndrome, 242840 |
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