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| Structural eye disease v0.76 | PDZD7 | Nicola Ragge reviewed gene: PDZD7: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Usher syndrome, type IIC, GPR98/PDZD7 digenic, Retinal disease in Usher syndrome type IIA, modifier of, 605472, 276901; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.48 | PDZD7 | Ivone Leong edited their review of gene: PDZD7: Changed phenotypes: Usher syndrome, type IIC, GPR98/PDZD7 digenic, 605472, Retinal disease in Usher syndrome type IIA, modifier of, 276901 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.38 | PDZD7 | Ivone Leong reviewed gene: PDZD7: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Rhizomelic chondrodysplasia punctata, type 1, 215100, Peroxisome biogenesis disorder 9B, 614879; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.38 | PDE6H | Ivone Leong reviewed gene: PDE6H: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Usher syndrome, type IIC, GPR98/PDZD7 digenic, 605472, Retinal disease in Usher syndrome type IIA, modifier of, 276901; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.15 | PDZD7 |
Ivone Leong Source NHS GMS was added to PDZD7. Mode of inheritance for gene PDZD7 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Usher syndrome, type IIC, GPR98/PDZD7 digenic, 605472; Retinal disease in Usher syndrome type IIA, modifier of, 276901 for gene: PDZD7 |
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| Structural eye disease v0.2 | PDZD7 |
Ellen McDonagh gene: PDZD7 was added gene: PDZD7 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: PDZD7 was set to Phenotypes for gene: PDZD7 were set to Eye Disorders |
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