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| Likely inborn error of metabolism - targeted testing not possible v1.47 | ATP8B1 |
Ivone Leong Source NHS GMS was added to ATP8B1. Source London North GLH was added to ATP8B1. |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | ATP8B1 |
Ellen McDonagh gene: ATP8B1 was added gene: ATP8B1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ATP8B1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: ATP8B1 were set to 27604308 Phenotypes for gene: ATP8B1 were set to Cholestasis, progressive familial intrahepatic 1 211600; Cholestasis, benign recurrent intrahepatic 243300 AR; Cholestasis, intrahepatic, of pregnancy, 1 147480 AD; Byler disease (Disorders of bile acid metabolism and transport) |
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