NDUFS4

NADH:ubiquinone oxidoreductase subunit S4
OMIM: 602694, Gene2Phenotype

15 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 15 panels
Green NDUFS4 in White matter disorders and cerebral calcification - narrow panel Level 2: Neurology Version 7.18 Latest signed off version: v7.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Mitochondrial complex I deficiency Mitochondrial complex I disorders Mitochondrial Leukoencephalopathy MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY
Green NDUFS4 in Structural basal ganglia disorders Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.40	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Leigh syndrome 256000 Mitochondrial complex I deficiency 252010
Green NDUFS4 in Inherited white matter disorders Level 3: White matter disorders Level 2: Neurology and neurodevelopmental disorders Version 1.186	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Mitochondrial Leukoencephalopathy Mitochondrial complex I disorders MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY Mitochondrial complex I deficiency
Green NDUFS4 in Mitochondrial disorder with complex I deficiency Level 2: Mitochondrial Version 3.19 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Mitochondrial complex I deficiency, nuclear type 1, 252010
Green NDUFS4 in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.643	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits) Isolated complex I deficiency Leigh syndrome, 256000Mitochondrial complex I deficiency, 252010 Mitochondrial Diseases Mitochondrial Respiratory Chain Complex I Deficiency
Green NDUFS4 in Likely inborn error of metabolism Level 2: Metabolic Version 8.100 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green 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 NDUFS4 in Possible mitochondrial disorder - nuclear genes Level 2: Mitochondrial Version 4.23 Latest signed off version: v4.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Mitochondrial complex I deficiency, nuclear type 1, 252010
Red NDUFS4 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.169 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red PAGE DD-Gene2Phenotype Phenotypes MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY LEIGH SYNDROME DUP LEIGH SYNDROME
Green NDUFS4 in DDG2P Version 6.438 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY 252010 LEIGH SYNDROME 256000 LEIGH SYNDROME DUP 256000
Green NDUFS4 in Early onset or syndromic epilepsy Level 2: Neurology Version 8.159 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Leigh syndrome 256000 Mitochondrial complex I deficiency 252010
Green NDUFS4 in Intellectual disability Level 2: Developmental disorders Version 9.330 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Leigh syndrome, 256000Mitochondrial complex I deficiency, 252010 MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY (NUCLEAR GENES)
Green NDUFS4 in Mitochondrial disorders Level 2: Mitochondrial Version 9.46 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy	review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Expert list Expert Phenotypes Isolated complex I deficiency Leigh syndrome, 256000 Mitochondrial complex I deficiency, 252010 Mitochondrial Diseases Mitochondrial Respiratory Chain Complex I Deficiency
Red NDUFS4 in Adult onset dystonia, chorea or related movement disorder Level 2: Neurology Version 5.5 Latest signed off version: v5.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS London North GLH Phenotypes Mitochondrial complex I deficiency 252010 Leigh syndrome 256000
Amber NDUFS4 in Paediatric or syndromic cardiomyopathy Level 2: Cardiology Version 7.98 Latest signed off version: v7.0 (30 Apr 2025) Component of the following Super Panels: Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber MetBioNet NHS GMS Phenotypes Mitochondrial complex I deficiency, nuclear type 1, 252010
Green NDUFS4 in Childhood onset dystonia, chorea or related movement disorder Level 2: Neurology Version 7.17 Latest signed off version: v7.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources PanelApp Expert Review Green London North GLH Phenotypes Mitochondrial complex I deficiency 252010 Leigh syndrome 256000