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Date	Panel	Item	Activity
Filter activities 5 actions
16 Nov 2020	Likely inborn error of metabolism v2.30	SCO1	Arina Puzriakova Phenotypes for gene: SCO1 were changed from Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex IV Deficiency; Isolated complex IV deficiency; Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors); Hepatic failure, early onset, and neurologic disorder to Mitochondrial complex IV deficiency, nuclear type 4, OMIM:619048
16 Nov 2020	Likely inborn error of metabolism v2.29	SCO1	Arina Puzriakova Publications for gene: SCO1 were set to 27604308
13 Feb 2019	Likely inborn error of metabolism v1.47	SCO1	Ivone Leong Source NHS GMS was added to SCO1. Source London North GLH was added to SCO1.
16 Dec 2018	Likely inborn error of metabolism v0.4	SCO1	Ellen McDonagh Added phenotypes Mitochondrial Respiratory Chain Complex IV Deficiency; Mitochondrial Diseases; Hepatic failure, early onset, and neurologic disorder; Isolated complex IV deficiency for gene: SCO1
16 Dec 2018	Likely inborn error of metabolism v0.4	SCO1	Ellen McDonagh gene: SCO1 was added gene: SCO1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SCO1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SCO1 were set to 27604308 Phenotypes for gene: SCO1 were set to Mitochondrial Respiratory Chain Complex IV Deficiency; Mitochondrial Diseases; Hepatic failure, early onset, and neurologic disorder; Isolated complex IV deficiency; Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors)