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| DDG2P v3.12 | NPHP1 | Achchuthan Shanmugasundram reviewed gene: NPHP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 9326933, 9382140, 8852662, 10839884; Phenotypes: NEPHRONOPHTHISIS TYPE 1, OMIM:256100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | NPHP1 | Achchuthan Shanmugasundram Publications for gene: NPHP1 were updated from 9326933; 10839884; 8852662; 9382140 to 9326933; 9382140; 8852662; 10839884 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | NPHP1 | Rebecca Foulger reviewed gene: NPHP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | NPHP1 | Rebecca Foulger Added phenotypes JOUBERT SYNDROME TYPE 4 609583 for gene: NPHP1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | NPHP1 |
Rebecca Foulger Added phenotypes NEPHRONOPHTHISIS TYPE 1 256100 for gene: NPHP1 Publications for gene NPHP1 were changed from to 9326933; 10839884; 8852662; 9382140 |
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| DDG2P v0.1 | NPHP1 |
Rebecca Foulger gene: NPHP1 was added gene: NPHP1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NPHP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NPHP1 were set to SENIOR-LOKEN SYNDROME TYPE 1 266900 |
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