Genomics England

COA6

cytochrome c oxidase assembly factor 6

Panel	Mode of inheritance	Details
Filter panels5 panels
Green in Likely inborn error of metabolism - targeted testing not possible 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 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes ?{Fatal infantile cardiomyopathy, association with}, 604377
Green in Mitochondrial disorder with complex IV deficiency R-numbers: R356 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 616501
Green in Mitochondrial disorders Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 616501
Green in Paediatric or syndromic cardiomyopathy Component of the following Super Panels: - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R135 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 616501
Green in Possible mitochondrial disorder - nuclear genes R-numbers: R63 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 616501