Genomics England

TACO1

translational activator of cytochrome c oxidase I

Panel	Mode of inheritance	Details
Filter panels6 panels
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.15	BIALLELIC, autosomal or pseudoautosomal	Phenotypes LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX IV DEFICIENCY 256000
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, Multiple respiratory chain complex deficiencies (disorders of protein synthesis), ?Mitochondrial complex IV deficiency, 220110, Isolated complex IV deficiency, Mitochondrial Respiratory Chain Complex IV Deficiency, Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors)
Green in Mitochondrial disorder with complex IV deficiency R-numbers: R356 Signed-off version 3.20	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mitochondrial complex IV deficiency, 220110
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, Multiple respiratory chain complex deficiencies (disorders of protein synthesis), ?Mitochondrial complex IV deficiency, 220110, Mitochondrial Diseases, 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 Mitochondrial complex IV deficiency, 220110
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 Mitochondrial Leukoencephalopathy