Genomics England

NDUFS1

NADH:ubiquinone oxidoreductase core subunit S1

Panel	Mode of inheritance	Details
Filter panels8 panels
Green in Childhood onset dystonia, chorea or related movement disorder R-numbers: R57 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mitochondrial complex I deficiency, nuclear type 5, 618226
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, LEIGH SYNDROME 256000
Green in Intellectual disability - microarray and sequencing Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 5.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mitochondrial complex I deficiency, 252010, LEIGH SYNDROME (NUCLEAR DNA MUTATION)
Green in Likely inborn error of metabolism - targeted testing not possible 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 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mitochondrial complex I deficiency, 252010, 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 Mitochondrial disorder with complex I deficiency R-numbers: R353 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mitochondrial complex I deficiency, nuclear type 5, 618226
Green in Mitochondrial disorders Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Isolated complex I deficiency, Mitochondrial complex I deficiency, 252010, Mitochondrial Diseases, Mitochondrial Respiratory Chain Complex I Deficiency
Green in Possible mitochondrial disorder - nuclear genes R-numbers: R63 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mitochondrial complex I deficiency, nuclear type 5, 618226
Green in White matter disorders and cerebral calcification - narrow panel Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mitochondrial complex I deficiency, Mitochondrial complex I disorders, General Leukodystrophy & Mitochondrial Leukoencephalopathy, Mitochondrial Leukoencephalopathy, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY