Genomics England

NDUFA4, mitochondrial complex associated

Panel	Mode of inheritance	Details
Filter panels4 panels
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 Isolated complex IV deficiency, No OMIM phenotype
Green in Mitochondrial disorder with complex IV deficiency R-numbers: R356 Signed-off version 3.23	BIALLELIC, autosomal or pseudoautosomal	Phenotypes No OMIM phenotype
Green in Mitochondrial disorders Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 8.9	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Isolated complex IV deficiency, No OMIM phenotype
Green in Possible mitochondrial disorder - nuclear genes R-numbers: R63 Signed-off version 3.113	BIALLELIC, autosomal or pseudoautosomal	Phenotypes No OMIM phenotype, Mitochondrial complex IV deficiency