Genomics England

COX11, cytochrome c oxidase copper chaperone

Panel	Mode of inheritance	Details
Filter panels4 panels
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 8.134	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 3.23	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: - Childhood onset leukodystrophy Signed-off version 8.9	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 3.113	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mitochondrial complex IV deficiency, nuclear type 23, OMIM:620275, Mitochondrial complex IV deficiency, nuclear type 23, MONDO:0859520