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| Structural eye disease v0.76 | NPHP4 | Nicola Ragge reviewed gene: NPHP4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Nephronophthisis 4, Senior-Loken syndrome 4, 606966, 606996; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.48 | NPHP4 | Ivone Leong edited their review of gene: NPHP4: Changed phenotypes: Nephronophthisis 4, 606966, Senior-Loken syndrome, 606996 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.38 | NPHP4 | Ivone Leong reviewed gene: NPHP4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Retinitis pigmentosa 37, 611131, Enhanced S-cone syndrome, 268100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.15 | NPHP4 |
Ivone Leong Source NHS GMS was added to NPHP4. Mode of inheritance for gene NPHP4 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Senior-Loken syndrome, 606996; Nephronophthisis 4, 606966 for gene: NPHP4 |
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| Structural eye disease v0.2 | NPHP4 |
Ellen McDonagh gene: NPHP4 was added gene: NPHP4 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: NPHP4 was set to Phenotypes for gene: NPHP4 were set to Eye Disorders |
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