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| Likely inborn error of metabolism - targeted testing not possible v1.47 | LCT |
Ivone Leong Source NHS GMS was added to LCT. Source London North GLH was added to LCT. |
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| Likely inborn error of metabolism - targeted testing not possible v1.47 | B3GLCT |
Ivone Leong Source NHS GMS was added to B3GLCT. Source London North GLH was added to B3GLCT. |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | LCT |
Ellen McDonagh gene: LCT was added gene: LCT was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: LCT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LCT were set to 27604308 Phenotypes for gene: LCT were set to Lactose intolerance (Other carbohydrate disorders); Lactase deficiency, congenital, 223000 |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | B3GLCT |
Ellen McDonagh Added phenotypes Peters-plus syndrome 261540; O-fucose-specific beta-1,3-N-glucosyltransferase deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) for gene: B3GLCT Publications for gene B3GLCT were changed from 27604308 to 23889335; 16909395 |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | B3GLCT |
Ellen McDonagh gene: B3GLCT was added gene: B3GLCT was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: B3GLCT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: B3GLCT were set to 27604308 Phenotypes for gene: B3GLCT were set to Peters-plus syndrome 261540; O-fucose-specific beta-1,3-N-glucosyltransferase deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies); O-fucose-specific beta-1,3-N-glucosyltransferase deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) |
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