Genomics England

NDUFS4

NADH:ubiquinone oxidoreductase subunit S4

Panel	Mode of inheritance	Details
Filter panels9 panels
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 8.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY 252010, LEIGH SYNDROME 256000, LEIGH SYNDROME DUP 256000
Green in Dystonia, chorea or related movement disorder, childhood onset R-numbers: R57 Signed-off version 8.13	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mitochondrial complex I deficiency 252010, Leigh syndrome 256000
Green in Early onset or syndromic epilepsy Component of the following Super Panels: - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood Signed-off version 9.56	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Leigh syndrome 256000, Mitochondrial complex I deficiency 252010
Green in Intellectual disability Component of the following Super Panels: - Hypotonic infant - Leukodystrophy, childhood onset - Paediatric disorders Signed-off version 11.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Leigh syndrome, 256000Mitochondrial complex I deficiency, 252010, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY (NUCLEAR GENES)
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 Leigh syndrome, 256000, 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 4.2	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mitochondrial complex I deficiency, nuclear type 1, 252010
Green in Mitochondrial disorders Component of the following Super Panels: - Leukodystrophy, childhood onset Signed-off version 10.18	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Isolated complex I deficiency, Leigh syndrome, 256000, 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 5.17	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mitochondrial complex I deficiency, nuclear type 1, 252010
Green in White matter disorders and cerebral calcification - childhood onset Component of the following Super Panels: - Leukodystrophy, childhood onset - Paediatric disorders Signed-off version 8.6	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mitochondrial complex I deficiency, Mitochondrial complex I disorders, Mitochondrial Leukoencephalopathy, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY