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Likely inborn error of metabolism - targeted testing not possible v1.47 EPM2A Ivone Leong Source NHS GMS was added to EPM2A.
Source London North GLH was added to EPM2A.
Likely inborn error of metabolism - targeted testing not possible v0.4 EPM2A Ellen McDonagh gene: EPM2A was added
gene: EPM2A was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: EPM2A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EPM2A were set to 27604308
Phenotypes for gene: EPM2A were set to Epilepsy, progressive myoclonic 2A (Lafora)