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Likely inborn error of metabolism - targeted testing not possible v1.47 GNPTG Ivone Leong Source NHS GMS was added to GNPTG.
Source London North GLH was added to GNPTG.
Likely inborn error of metabolism - targeted testing not possible v0.4 GNPTG Ellen McDonagh gene: GNPTG was added
gene: GNPTG was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: GNPTG was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GNPTG were set to 27604308
Phenotypes for gene: GNPTG were set to Mucolipidosis III, Pseudo-Hurler polydystrophy (Other lysosomal disorders); mucolipidpsis type III complementation group C; Mucolipidosis, Type III Gamma; Mucolipidosis III gamma