Genomics England

NDUFS8

NADH:ubiquinone oxidoreductase core subunit S8

Panel	Mode of inheritance	Details
Filter panels10 panels
Green in Cardiomyopathies - including childhood onset R-numbers: R135 Signed-off version 2.2	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mitochondrial complex I deficiency, nuclear type 2, 618222
Green in Childhood onset dystonia or chorea or related movement disorder R-numbers: R57 Signed-off version 2.6	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mitochondrial complex I deficiency, nuclear type 2, 618222
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 3.1	BIALLELIC, autosomal or pseudoautosomal	Phenotypes MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY 252010
Green in Genetic epilepsy syndromes R-numbers: R59 Signed-off version 3.1	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mitochondrial complex I deficiency, nuclear type 2, 618222, Leigh syndrome due to mitochondrial complex I deficiency
Green in Inborn errors of metabolism Component of the following Super Panels: - Hypotonic infant - Paediatric disorders - White matter disorders - childhood onset R-numbers: R98 Signed-off version 3.2	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Leigh syndrome due to mitochondrial complex I deficiency, 256000, Mitochondrial Diseases, Isolated complex I deficiency, Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits), Mitochondrial Respiratory Chain Complex I Deficiency
Green in Intellectual disability Component of the following Super Panels: - Hypotonic infant - Paediatric disorders - White matter disorders - childhood onset R-numbers: R29 Signed-off version 4.4	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Leigh syndrome due to mitochondrial complex I deficiency, 256000, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY (NUCLEAR GENES)
Green in Mitochondrial disorder with complex I deficiency R-numbers: R353 Signed-off version 2.2	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mitochondrial complex I deficiency, nuclear type 2, 618222
Green in Mitochondrial disorders Component of the following Super Panels: - White matter disorders - childhood onset Signed-off version 3.1	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Isolated complex I deficiency, Leigh syndrome due to mitochondrial complex I deficiency, 256000, Mitochondrial Diseases, Mitochondrial Respiratory Chain Complex I Deficiency
Green in Possible mitochondrial disorder - nuclear genes R-numbers: R63 Signed-off version 2.2	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mitochondrial complex I deficiency, nuclear type 2, 618222
Green in White matter disorders and cerebral calcification - narrow panel Component of the following Super Panels: - White matter disorders - childhood onset Signed-off version 2.1	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mitochondrial complex I disorders, Leigh syndrome due to mitochondrial complex I deficiency, Mitochondrial Leukoencephalopathy