Genomics England

cytochrome c oxidase subunit 6A1

Panel	Mode of inheritance	Details
Filter panels5 panels
Green in Hereditary neuropathy or pain disorder R-numbers: R78 Signed-off version 5.16	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Charcot Marie Tooth disease, recessive intermediate D, 616039
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 Charcot-Marie-Tooth disease, recessive intermediate D, 616039
Green in Mitochondrial disorder with complex IV deficiency R-numbers: R356 Signed-off version 3.20	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Charcot-Marie-Tooth disease, recessive intermediate D, 616039
Green in Mitochondrial disorders Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 7.4	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Charcot-Marie-Tooth disease, recessive intermediate D, 616039
Green in Possible mitochondrial disorder - nuclear genes R-numbers: R63 Signed-off version 3.105	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Charcot-Marie-Tooth disease, recessive intermediate D, 616039