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Likely inborn error of metabolism - targeted testing not possible v1.47 | LCAT |
Ivone Leong Source NHS GMS was added to LCAT. Source London North GLH was added to LCAT. |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | LCAT |
Ellen McDonagh gene: LCAT was added gene: LCAT was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: LCAT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LCAT were set to 27604308 Phenotypes for gene: LCAT were set to Norum disease/LCAT deficiency, 245900; Fish-eye disease, 136120; Lecithin cholesterol acyltransferase deficiency (Disorders of high density lipoprotein metabolism) |