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Severe Paediatric Disorders v0.12 | NPHP1 | Louise Daugherty reviewed gene: NPHP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | NPHP1 | Louise Daugherty Publications for gene NPHP1 were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | NPHP1 | Louise Daugherty Mode of inheritance for gene NPHP1 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.10 | NPHP1 | Louise Daugherty Added phenotypes Nephronophthisis 1, juvenile, 256100; Senior-Loken syndrome-1, 266900; Joubert syndrome 4, 609583 for gene: NPHP1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | NPHP1 | Louise Daugherty Added phenotypes Nephronophthisis 1, juvenile, 256100; Senior-Loken syndrome-1, 266900; Joubert syndrome 4, 609583 for gene: NPHP1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | NPHP1 | Louise Daugherty Added phenotypes Nephronophthisis 1, juvenile, 256100; Senior-Loken syndrome-1, 266900; Joubert syndrome 4, 609583 for gene: NPHP1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | NPHP1 | Louise Daugherty Added phenotypes Nephronophthisis 1, juvenile, 256100; Joubert syndrome 4, 609583; Senior-Loken syndrome-1, 266900 for gene: NPHP1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.7 | NPHP1 | Louise Daugherty Source Next Generation Children Project was added to NPHP1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.5 | NPHP1 |
Louise Daugherty Source Expert Review Green was added to NPHP1. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Severe Paediatric Disorders v0.4 | NPHP1 |
Louise Daugherty gene: NPHP1 was added gene: NPHP1 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: NPHP1 was set to |