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| Niemann-Pick disease type A or B v1.2 | SMPD1 | Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIMs #257200 & #607616) and the OMIM records were last accessed on 29 December 2025. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Niemann-Pick disease type A or B v1.2 | SMPD1 | Achchuthan Shanmugasundram Phenotypes for gene: SMPD1 were changed from to Niemann-Pick disease, type A, OMIM:257200; Niemann-Pick disease, type B, OMIM:607616; Niemann-Pick disease type A, MONDO:0009756; Niemann-Pick disease type B, MONDO:0011871 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Niemann-Pick disease type A or B v0.1 | SMPD1 | Achchuthan Shanmugasundram reviewed gene: SMPD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Niemann-Pick disease type A or B v0.1 | SMPD1 |
Achchuthan Shanmugasundram gene: SMPD1 was added gene: SMPD1 was added to Niemann-Pick disease type A or B. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: SMPD1 was set to BIALLELIC, autosomal or pseudoautosomal |
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