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| Likely inborn error of metabolism - targeted testing not possible v1.47 | CHST3 |
Ivone Leong Source NHS GMS was added to CHST3. Source London North GLH was added to CHST3. |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | CHST3 |
Ellen McDonagh Added phenotypes Spondyloepiphyseal dysplasia with congenital joint dislocations 143095; CHST3-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) for gene: CHST3 Publications for gene CHST3 were changed from 27604308 to 20830804 |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | CHST3 |
Ellen McDonagh gene: CHST3 was added gene: CHST3 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: CHST3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CHST3 were set to 27604308 Phenotypes for gene: CHST3 were set to Spondyloepiphyseal dysplasia with congenital joint dislocations 143095; CHST3-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) |
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