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| Structural eye disease v0.76 | AGK | Nicola Ragge reviewed gene: AGK: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Sengers syndrome, Cataract 38, autosomal recessive, 212350, 614691; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.49 | AGK | Ivone Leong edited their review of gene: AGK: Changed phenotypes: Sengers syndrome, Cataract 38, autosomal recessive, 212350, 614691 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.39 | AGK | Ivone Leong reviewed gene: AGK: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Rhizomelic chondrodysplasia punctata, type 3, 600121; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.13 | AGK |
Ivone Leong gene: AGK was added gene: AGK was added to Structural eye disease. Sources: NHS GMS Mode of inheritance for gene: AGK was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AGK were set to Cataract 38, autosomal recessive, 614691; Sengers syndrome, 212350 |
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