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| Niemann Pick disease type C v1.2 | NPC1 | Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #257220) and the OMIM record was last accessed on 29 December 2025. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Niemann Pick disease type C v1.2 | NPC1 | Achchuthan Shanmugasundram Phenotypes for gene: NPC1 were changed from to Niemann-Pick disease, type C1, OMIM:257220; Niemann-Pick disease, type D, OMIM:257220; Niemann-Pick disease, type C1, MONDO:0009757 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Niemann Pick disease type C v0.1 | NPC1 | Achchuthan Shanmugasundram reviewed gene: NPC1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Niemann Pick disease type C v0.1 | NPC1 |
Achchuthan Shanmugasundram gene: NPC1 was added gene: NPC1 was added to Niemann Pick disease type C. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: NPC1 was set to BIALLELIC, autosomal or pseudoautosomal |
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