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| Structural eye disease v0.76 | NOTCH2 | Nicola Ragge reviewed gene: NOTCH2: Rating: RED; Mode of pathogenicity: ; Publications: 22173065; Phenotypes: Hajdu-Cheney syndrome, Alagille syndrome 2, 102500, 610205; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.49 | NOTCH2 | Ivone Leong edited their review of gene: NOTCH2: Changed phenotypes: Hajdu-Cheney syndrome, Alagille syndrome 2, 102500, 610205 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.39 | NOTCH2 | Ivone Leong reviewed gene: NOTCH2: Rating: RED; Mode of pathogenicity: ; Publications: 22173065; Phenotypes: Lowe syndrome, 309000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.13 | NOTCH2 |
Ivone Leong gene: NOTCH2 was added gene: NOTCH2 was added to Structural eye disease. Sources: NHS GMS Mode of inheritance for gene: NOTCH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NOTCH2 were set to 22173065 Phenotypes for gene: NOTCH2 were set to Hajdu-Cheney syndrome, 102500; Alagille syndrome 2, 610205 |
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