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| Structural eye disease v0.76 | ITPR1 | Nicola Ragge reviewed gene: ITPR1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Gillespie syndrome, 206700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.49 | ITPR1 | Ivone Leong edited their review of gene: ITPR1: Changed phenotypes: Gillespie syndrome, 206700 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.39 | ITPR1 | Ivone Leong reviewed gene: ITPR1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Hemorrhagic destruction of the brain, subependymal calcification, and cataracts, 613730; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.13 | ITPR1 |
Ivone Leong gene: ITPR1 was added gene: ITPR1 was added to Structural eye disease. Sources: NHS GMS Mode of inheritance for gene: ITPR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ITPR1 were set to Gillespie syndrome, 206700 |
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