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| Likely inborn error of metabolism - targeted testing not possible v1.47 | HLCS |
Ivone Leong Source NHS GMS was added to HLCS. Source London North GLH was added to HLCS. |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | HLCS |
Ellen McDonagh Added phenotypes Holocarboxylase synthetase deficiency, 253270; Holocarboxylase synthetase deficiency; lactic acidosis with seizures and eczema, immune deficiency; Holocarboxylase synthetase deficiency (Disorders of biotin metabolism) for gene: HLCS Publications for gene HLCS were changed from to 27604308 |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | HLCS |
Ellen McDonagh gene: HLCS was added gene: HLCS was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: HLCS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HLCS were set to Holocarboxylase synthetase deficiency, 253270 |
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