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| DDG2P v3.12 | NPC2 | Achchuthan Shanmugasundram reviewed gene: NPC2: Rating: GREEN; Mode of pathogenicity: ; Publications: 12447927, 17470133, 11125141, 11567215; Phenotypes: NIEMANN-PICK DISEASE, TYPE C2, OMIM:607625; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | NPC2 | Achchuthan Shanmugasundram Publications for gene: NPC2 were updated from 11125141; 11567215; 12447927; 17470133 to 12447927; 17470133; 11125141; 11567215 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | NPC2 | Rebecca Foulger reviewed gene: NPC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | NPC2 |
Rebecca Foulger gene: NPC2 was added gene: NPC2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NPC2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NPC2 were set to 11125141; 11567215; 12447927; 17470133 Phenotypes for gene: NPC2 were set to NIEMANN-PICK DISEASE, TYPE C2 607625 |
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