Genomics England

COX11

COX11, cytochrome c oxidase copper chaperone

Panel	Mode of inheritance	Details
Filter panels5 panels
Green in Intellectual disability Component of the following Super Panels: - Hypotonic infant - Leukodystrophy, childhood onset - Paediatric disorders Signed-off version 11.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mitochondrial complex IV deficiency, nuclear type 23, OMIM:620275, Mitochondrial complex IV deficiency, nuclear type 23, MONDO:0859520
Green in Likely inborn error of metabolism Component of the following Super Panels: - Hypotonic infant - Leukodystrophy, childhood onset - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R98 Signed-off version 9.29	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mitochondrial complex IV deficiency, nuclear type 23, OMIM:620275, Mitochondrial complex IV deficiency, nuclear type 23, MONDO:0859520
Green in Mitochondrial disorder with complex IV deficiency R-numbers: R356 Signed-off version 5.4	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mitochondrial complex IV deficiency, nuclear type 23, OMIM:620275, Mitochondrial complex IV deficiency, nuclear type 23, MONDO:0859520
Green in Mitochondrial disorders Component of the following Super Panels: - Leukodystrophy, childhood onset Signed-off version 10.18	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mitochondrial complex IV deficiency, nuclear type 23, OMIM:620275, Mitochondrial complex IV deficiency, nuclear type 23, MONDO:0859520
Green in Possible mitochondrial disorder, nuclear genes R-numbers: R63 Signed-off version 5.17	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mitochondrial complex IV deficiency, nuclear type 23, OMIM:620275, Mitochondrial complex IV deficiency, nuclear type 23, MONDO:0859520