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Likely inborn error of metabolism - targeted testing not possible v1.47 | CHST14 |
Ivone Leong Source NHS GMS was added to CHST14. Source London North GLH was added to CHST14. |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | CHST14 |
Ellen McDonagh Added phenotypes Ehlers-Danlos syndrome, musculocontractural type 1 601776; CHST14-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) for gene: CHST14 Publications for gene CHST14 were changed from 26646600 to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | CHST14 |
Ellen McDonagh gene: CHST14 was added gene: CHST14 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: CHST14 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CHST14 were set to 26646600 Phenotypes for gene: CHST14 were set to Ehlers-Danlos syndrome, musculocontractural type 1 601776; CHST14-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) |