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| Structural eye disease v0.76 | PAX2 | Nicola Ragge reviewed gene: PAX2: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: 8589702, 22213154, 10533062; Phenotypes: Papillorenal syndrome 120330; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.38 | PAX2 | Ivone Leong reviewed gene: PAX2: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: 8589702, 22213154, 10533062; Phenotypes: Papillorenal syndrome 120330; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.15 | PAX2 |
Ivone Leong Source NHS GMS was added to PAX2. Mode of pathogenicity for gene PAX2 was changed from to Other - please provide details in the comments Added phenotypes Papillorenal syndrome 120330 for gene: PAX2 Publications for gene PAX2 were changed from 8589702; 22213154; 10533062 to 10533062; 8589702; 22213154 |
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| Structural eye disease v0.9 | PAX2 | Ivone Leong Publications for gene: PAX2 were set to 8589702 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.8 | PAX2 | Anna de Burca reviewed gene: PAX2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID:22213154, 10533062; Phenotypes: Papillorenal syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.2 | PAX2 |
Ellen McDonagh gene: PAX2 was added gene: PAX2 was added to Structural eye disease. Sources: Expert Review Green Mode of inheritance for gene: PAX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PAX2 were set to 8589702 Phenotypes for gene: PAX2 were set to Papillorenal syndrome 120330 |
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