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| Likely inborn error of metabolism - targeted testing not possible v1.47 | SMPD1 |
Ivone Leong Source NHS GMS was added to SMPD1. Source London North GLH was added to SMPD1. |
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| Likely inborn error of metabolism - targeted testing not possible v1.30 | SMPD1 | Louise Daugherty Phenotypes for gene: SMPD1 were changed from to Niemann-Pick disease, type A, 257200; Niemann-Pick disease, type B, 607616 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v0.4 | SMPD1 |
Ellen McDonagh gene: SMPD1 was added gene: SMPD1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SMPD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SMPD1 were set to 27604308 |
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