Genomics England

cytochrome c oxidase subunit 5A

Panel	Mode of inheritance	Details
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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 7.13	BIALLELIC, autosomal or pseudoautosomal	Phenotypes ?Mitochondrial complex IV deficiency, nuclear type 20, OMIM:619064, Mitochondrial complex IV deficiency, nuclear type 23, MONDO:0859520
Green in Mitochondrial disorder with complex IV deficiency R-numbers: R356 Signed-off version 3.23	BIALLELIC, autosomal or pseudoautosomal	Phenotypes ?Mitochondrial complex IV deficiency, nuclear type 20, OMIM:619064, Mitochondrial complex IV deficiency, nuclear type 23, MONDO:0859520
Green in Mitochondrial disorders Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 8.9	BIALLELIC, autosomal or pseudoautosomal	Phenotypes ?Mitochondrial complex IV deficiency, nuclear type 20, OMIM:619064, Mitochondrial complex IV deficiency, nuclear type 23, MONDO:0859520
Green in Possible mitochondrial disorder - nuclear genes R-numbers: R63 Signed-off version 3.113	BIALLELIC, autosomal or pseudoautosomal	Phenotypes ?Mitochondrial complex IV deficiency, nuclear type 20, OMIM:619064, Mitochondrial complex IV deficiency, nuclear type 23, MONDO:0859520