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| Likely inborn error of metabolism - targeted testing not possible v1.47 | ABCD1 |
Ivone Leong Source NHS GMS was added to ABCD1. Source London North GLH was added to ABCD1. |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | ABCD1 |
Ellen McDonagh gene: ABCD1 was added gene: ABCD1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ABCD1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: ABCD1 were set to 27604308 Phenotypes for gene: ABCD1 were set to X-linked adrenoleukodystrophy (Disorders of peroxisomal alpha-, beta and omega-oxidation); Adrenoleukodystrophy 300100 |
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