Date Panel Item Activity
2 actions
Inborn errors of metabolism v1.47 IVD Ivone Leong Source NHS GMS was added to IVD.
Source London North GLH was added to IVD.
Inborn errors of metabolism v0.4 IVD Ellen McDonagh gene: IVD was added
gene: IVD was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: IVD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IVD were set to 27604308; 24816252
Phenotypes for gene: IVD were set to metabolic encephalopathy with hyperammonaemia, hypotonia, recurrent episodes of ketoacidosis, liver impairment, psychomotor retardation, recurrent infections.; Isovaleric acidemia; Isovaleric aciduria (Organic acidurias)