| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Structural eye disease v0.76 | PXDN | Nicola Ragge reviewed gene: PXDN: Rating: GREEN; Mode of pathogenicity: ; Publications: PMID: 24939590, 21907015, 29450879; Phenotypes: Corneal opacification and other ocular anomalies, 269400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.49 | PXDN | Ivone Leong edited their review of gene: PXDN: Changed phenotypes: Corneal opacification and other ocular anomalies, 269400 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.39 | PXDN | Ivone Leong reviewed gene: PXDN: Rating: GREEN; Mode of pathogenicity: ; Publications: 24939590, 21907015, 29450879; Phenotypes: Townes-Brocks branchiootorenal-like syndrome, 107480; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.13 | PXDN |
Ivone Leong gene: PXDN was added gene: PXDN was added to Structural eye disease. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: PXDN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PXDN were set to 29450879; 21907015; 24939590 Phenotypes for gene: PXDN were set to Corneal opacification and other ocular anomalies, 269400 |
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