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| DDG2P v3.12 | NPC1 | Achchuthan Shanmugasundram reviewed gene: NPC1: Rating: GREEN; Mode of pathogenicity: ; Publications: 11333381, 9211849, 12554680, 10521297, 10480349, 11479732, 11349231, 9245994; Phenotypes: NIEMANN-PICK DISEASE, TYPE C1, OMIM:257220; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | NPC1 | Achchuthan Shanmugasundram Publications for gene: NPC1 were updated from 10480349; 11333381; 11349231; 12554680; 9245994; 11479732; 10521297; 9211849 to 11333381; 9245994; 9211849; 12554680; 10521297; 11479732; 11349231; 10480349 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | NPC1 | Rebecca Foulger reviewed gene: NPC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | NPC1 |
Rebecca Foulger gene: NPC1 was added gene: NPC1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NPC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NPC1 were set to 10480349; 11333381; 11349231; 12554680; 9245994; 11479732; 10521297; 9211849 Phenotypes for gene: NPC1 were set to NIEMANN-PICK DISEASE, TYPE C1 257220 |
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