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Likely inborn error of metabolism - targeted testing not possible v1.47 APRT Ivone Leong Source NHS GMS was added to APRT.
Source London North GLH was added to APRT.
Likely inborn error of metabolism - targeted testing not possible v0.4 APRT Ellen McDonagh gene: APRT was added
gene: APRT was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: APRT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: APRT were set to 27604308
Phenotypes for gene: APRT were set to Adenine phosphoribosyltransferase deficiency 614723; Adenine phosphoribosyl transferase deficiency (Disorders of purine metabolism)