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| Structural eye disease v0.76 | NPHP1 | Nicola Ragge reviewed gene: NPHP1: Rating: RED; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: Nephronophthisis 1, juvenile, Senior-Loken syndrome-1, Joubert syndrome 4, 256100, 266900, 609583; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.48 | NPHP1 | Ivone Leong edited their review of gene: NPHP1: Changed phenotypes: Nephronophthisis 1, juvenile, Senior-Loken syndrome-1, Joubert syndrome 4, 256100, 266900, 609583 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.38 | NPHP1 | Ivone Leong reviewed gene: NPHP1: Rating: RED; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: Nephronophthisis 3, Meckel syndrome 7, Renal-hepatic-pancreatic dysplasia 1, 604387, 267010, 208540; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.15 | NPHP1 |
Ivone Leong Source NHS GMS was added to NPHP1. Added phenotypes 609583; 256100; 266900; Joubert syndrome 4; Senior-Loken syndrome-1; Nephronophthisis 1, juvenile for gene: NPHP1 |
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| Structural eye disease v0.2 | NPHP1 |
Ellen McDonagh gene: NPHP1 was added gene: NPHP1 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: NPHP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NPHP1 were set to 15689444; 15138899; 22982934 Phenotypes for gene: NPHP1 were set to Joubert syndrome, Nephronophthisis |
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