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| Structural eye disease v0.76 | PIKFYVE | Nicola Ragge reviewed gene: PIKFYVE: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Corneal fleck dystrophy, 121850; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.49 | PIKFYVE | Ivone Leong edited their review of gene: PIKFYVE: Changed phenotypes: Corneal fleck dystrophy, 121850 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.39 | PIKFYVE | Ivone Leong reviewed gene: PIKFYVE: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Treacher-Collins Syndrome, 248390; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.13 | PIKFYVE |
Ivone Leong gene: PIKFYVE was added gene: PIKFYVE was added to Structural eye disease. Sources: NHS GMS Mode of inheritance for gene: PIKFYVE was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PIKFYVE were set to Corneal fleck dystrophy, 121850 |
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