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| Lysosomal storage disorder v1.51 | NPC1 | Sarah Leigh Phenotypes for gene: NPC1 were changed from Niemann-Pick disease, type D 257220; Niemann-Pick disease, type C1 257220 to Niemann-Pick disease, type D OMIM:257220; Niemann-Pick disease, type C1 OMIM:257220; Niemann-Pick disease, type C1 MONDO:0009757 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lysosomal storage disorder v0.3 | NPC1 | Emma Ashton reviewed gene: NPC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lysosomal storage disorder v0.3 | NPC1 | Carol Hardy reviewed gene: NPC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Niemann-Pick disease, type C1 257220, Niemann-Pick disease, type D 257220; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lysosomal storage disorder v0.2 | NPC1 |
Ivone Leong gene: NPC1 was added gene: NPC1 was added to Lysosomal storage disorder. Sources: North London GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS Mode of inheritance for gene: NPC1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NPC1 were set to Niemann-Pick disease, type D 257220; Niemann-Pick disease, type C1 257220 |
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