Sarah Leigh Phenotypes for gene: UQCRQ were changed from Complex III (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Isolated complex III deficiency; Mitochondrial complex III deficiency, nuclear type 4, 615159; Mitochondrial Respiratory Chain Complex III Deficiency; Mitochondrial Diseases to Mitochondrial complex III deficiency, nuclear type 4, 615159
Sarah Leigh Added comment: Comment on list classification: Amber review collated by Carl Fratter (May 2019) on behalf of GMS mitochondrial specialist test group: One variant reported in a consanguineous Israeli Bedouin kindred with Mitochondrial complex III deficiency, nuclear type 4 (615159)(PMID: 18439546).