Genomics England

SCO2

SCO2, cytochrome c oxidase assembly protein

Panel	Mode of inheritance	Details
Filter panels10 panels
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.15	BIALLELIC, autosomal or pseudoautosomal	Phenotypes FATAL INFANTILE CARDIOENCEPHALOMYOPATHY DUE TO CYTOCHROME C OXIDASE DEFICIENCY 604377
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.195	BIALLELIC, autosomal or pseudoautosomal	Phenotypes FATAL INFANTILE CARDIOENCEPHALOMYOPATHY DUE TO CYTOCHROME C OXIDASE DEFICIENCY
Green in Hereditary neuropathy or pain disorder R-numbers: R78 Signed-off version 5.16	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Charcot-Marie-Tooth disease type 4, MONDO:0018995, Mitochondrial complex IV deficiency, nuclear type 2, OMIM:604377
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 7.51	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377, Myopia 6, 608908, FATAL INFANTILE CARDIOENCEPHALOMYOPATHY DUE TO CYTOCHROME C OXIDASE DEFICIENCY
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 6.14	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mitochondrial Diseases, Mitochondrial Respiratory Chain Complex IV Deficiency, Isolated complex IV deficiency, Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors), Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377, Myopia 6, 608908
Green in Mitochondrial disorder with complex IV deficiency R-numbers: R356 Signed-off version 3.20	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377
Green in Mitochondrial disorders Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 7.4	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Isolated complex IV deficiency, Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377, Myopia 6, 608908, Mitochondrial Diseases, Mitochondrial Respiratory Chain Complex IV Deficiency
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 5.13	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Isolated complex IV deficiency, Mitochondrial Diseases, Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors), syndromic HCM, Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377, Myopia 6, 608908, Mitochondrial Respiratory Chain Complex IV Deficiency
Green in Possible mitochondrial disorder - nuclear genes R-numbers: R63 Signed-off version 3.105	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377
Green in White matter disorders and cerebral calcification - narrow panel Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 5.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1