Genomics England

cytochrome c oxidase subunit 4I1

Panel	Mode of inheritance	Details
Filter panels4 panels
Green in Likely inborn error of metabolism Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R98 Signed-off version 9.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mitochondrial complex IV deficiency, nuclear type 16, OMIM:619060
Green in Mitochondrial disorder with complex IV deficiency R-numbers: R356 Signed-off version 5.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mitochondrial complex IV deficiency, nuclear type 16, OMIM:619060
Green in Mitochondrial disorders Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 10.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mitochondrial complex IV deficiency, nuclear type 16, OMIM:619060
Green in Possible mitochondrial disorder - nuclear genes R-numbers: R63 Signed-off version 5.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mitochondrial complex IV deficiency, nuclear type 16, OMIM:619060