Genomics England

cytochrome c oxidase subunit 6A2

Panel	Mode of inheritance	Details
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Green in Congenital myopathy Component of the following Super Panels: - Hypotonic infant - Other rare neuromuscular disorders R-numbers: R81 Signed-off version 7.77	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mitochondrial complex IV deficiency, nuclear type 18, OMIM:619062
Green in Likely inborn error of metabolism Component of the following Super Panels: - Hypotonic infant - Leukodystrophy, childhood onset - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R98 Signed-off version 9.29	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mitochondrial complex IV deficiency, nuclear type 18, OMIM:619062
Green in Mitochondrial disorder with complex IV deficiency R-numbers: R356 Signed-off version 5.4	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mitochondrial complex IV deficiency, nuclear type 18, OMIM:619062
Green in Mitochondrial disorders Component of the following Super Panels: - Leukodystrophy, childhood onset Signed-off version 10.18	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mitochondrial complex IV deficiency, nuclear type 18, OMIM:619062
Green in Possible mitochondrial disorder, nuclear genes R-numbers: R63 Signed-off version 5.17	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mitochondrial complex IV deficiency, nuclear type 18, OMIM:619062