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| Likely inborn error of metabolism - targeted testing not possible v1.47 | CHSY1 |
Ivone Leong Source NHS GMS was added to CHSY1. Source London North GLH was added to CHSY1. |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | CHSY1 |
Ellen McDonagh Added phenotypes Temtamy preaxial brachydactyly syndrome 605282; CHSY1-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) for gene: CHSY1 Publications for gene CHSY1 were changed from 27604308 to 24269551; 21129727 |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | CHSY1 |
Ellen McDonagh gene: CHSY1 was added gene: CHSY1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: CHSY1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CHSY1 were set to 27604308 Phenotypes for gene: CHSY1 were set to Temtamy preaxial brachydactyly syndrome 605282; CHSY1-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) |
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