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Date	Panel	Item	Activity
Filter activities 3 actions
13 Feb 2019	Likely inborn error of metabolism v1.47	PDHA1	Ivone Leong Source NHS GMS was added to PDHA1. Source London North GLH was added to PDHA1.
16 Dec 2018	Likely inborn error of metabolism v0.4	PDHA1	Ellen McDonagh Added phenotypes Pyruvate dehydrogenase E1? subunit deficiency (Disorders of pyruvate metabolism); Pyruvate dehydrogenase E1-alpha deficiency, 312170; Leigh syndrome, X-linked, 308930 for gene: PDHA1 Publications for gene PDHA1 were changed from to 27604308
16 Dec 2018	Likely inborn error of metabolism v0.4	PDHA1	Ellen McDonagh gene: PDHA1 was added gene: PDHA1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PDHA1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: PDHA1 were set to Leigh syndrome, X-linked, 308930; Pyruvate dehydrogenase E1-alpha deficiency, 312170