COX11

COX11, cytochrome c oxidase copper chaperone
OMIM: 603648, Gene2Phenotype

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Green COX11 in Mitochondrial disorder with complex IV deficiency Level 2: Mitochondrial Version 5.5 Latest signed off version: v5.4 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Mitochondrial complex IV deficiency, nuclear type 23, OMIM:620275 Mitochondrial complex IV deficiency, nuclear type 23, MONDO:0859520
Green COX11 in Likely inborn error of metabolism Level 2: Metabolic Version 9.30 Latest signed off version: v9.29 (12 Aug 2026) Component of the following Super Panels: Hypotonic infant Leukodystrophy, childhood onset Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Mitochondrial complex IV deficiency, nuclear type 23, OMIM:620275 Mitochondrial complex IV deficiency, nuclear type 23, MONDO:0859520
Green COX11 in Possible mitochondrial disorder, nuclear genes Level 2: Mitochondrial Version 5.23 Latest signed off version: v5.17 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Mitochondrial complex IV deficiency, nuclear type 23, OMIM:620275 Mitochondrial complex IV deficiency, nuclear type 23, MONDO:0859520
Amber COX11 in Early onset or syndromic epilepsy Level 2: Neurology Version 9.74 Latest signed off version: v9.56 (12 Aug 2026) Component of the following Super Panels: Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Mitochondrial complex IV deficiency, nuclear type 23, OMIM:620275 Mitochondrial complex IV deficiency, nuclear type 23, MONDO:0859520
Green COX11 in Intellectual disability Level 2: Developmental disorders Version 11.28 Latest signed off version: v11.0 (12 Aug 2026) Component of the following Super Panels: Hypotonic infant Leukodystrophy, childhood onset Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Mitochondrial complex IV deficiency, nuclear type 23, OMIM:620275 Mitochondrial complex IV deficiency, nuclear type 23, MONDO:0859520
Green COX11 in Mitochondrial disorders Level 2: Mitochondrial Version 10.23 Latest signed off version: v10.18 (12 Aug 2026) Component of the following Super Panels: Leukodystrophy, childhood onset	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Mitochondrial complex IV deficiency, nuclear type 23, OMIM:620275 Mitochondrial complex IV deficiency, nuclear type 23, MONDO:0859520