Genomics England

COX20

COX20, cytochrome c oxidase assembly factor

Panel	Mode of inheritance	Details
Filter panels8 panels
Green in Ataxia and cerebellar anomalies - narrow panel Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies - childhood onset Signed-off version 4.40	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mitochondrial complex IV deficiency, 220110
Green in Childhood onset dystonia, chorea or related movement disorder R-numbers: R57 Signed-off version 3.56	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mitochondrial complex IV deficiency, nuclear type 11, OMIM:619054
Green in Hereditary ataxia with onset in adulthood R-numbers: R54 Signed-off version 4.26	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mitochondrial complex IV deficiency, 220110, Mitochondrial complex IV deficiency
Green in Hereditary neuropathy or pain disorder R-numbers: R78 Signed-off version 3.66	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mitochondrial complex IV deficiency, nuclear type 11, OMIM:619054
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 4.78	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mitochondrial complex IV deficiency, 220110, Isolated 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 3.5	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 4.114	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Isolated complex IV deficiency, Mitochondrial complex IV deficiency, 220110
Green in Possible mitochondrial disorder - nuclear genes R-numbers: R63 Signed-off version 3.69	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mitochondrial complex IV deficiency, 220110