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| Likely inborn error of metabolism - targeted testing not possible v1.47 | PCCA |
Ivone Leong Source NHS GMS was added to PCCA. Source London North GLH was added to PCCA. |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | PCCB |
Ellen McDonagh gene: PCCB was added gene: PCCB was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PCCB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PCCB were set to 27604308 Phenotypes for gene: PCCB were set to as PCCA (metabolic encephalopathy with hyperammonaemia, hypotonia, recurrent episodes of ketoacidosis, liver impairment, psychomotor retardation, recurrent infections); Propionic acidemia; Propionicacidemia 606054; Propionicacidemia; Propionic aciduria (Organic acidurias) |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | PCCA |
Ellen McDonagh gene: PCCA was added gene: PCCA was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PCCA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PCCA were set to 27604308 Phenotypes for gene: PCCA were set to Propionicacidemia; Propionic acidemia; Propionicacidemia 606054; metabolic encephalopathy with hyperammonaemia, hypotonia, recurrent episodes of ketoacidosis, liver impairment, psychomotor retardation, recurrent infections; Propionic aciduria (Organic acidurias) |
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