NDUFA1

NADH:ubiquinone oxidoreductase subunit A1
OMIM: 300078, Gene2Phenotype

14 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 14 panels
Green NDUFA1 in Structural basal ganglia disorders Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.39	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Literature Phenotypes Mitochondrial complex I deficiency 252010
Green NDUFA1 in Mitochondrial disorder with complex I deficiency Version 3.8 Latest signed off version: v3.0 (22 Mar 2023)	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources NHS GMS Expert Review Green Phenotypes Mitochondrial complex I deficiency, nuclear type 12, 301020
Green NDUFA1 in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.617	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Literature Phenotypes Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits) Isolated complex I deficiency Mitochondrial complex I deficiency, 252010 Mitochondrial Diseases
Green NDUFA1 in Likely inborn error of metabolism - targeted testing not possible Version 5.3 Latest signed off version: v5.0 (1 May 2024) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources London North GLH NHS GMS Expert Review Green Phenotypes Mitochondrial complex I deficiency, 252010 Mitochondrial Diseases Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits) Isolated complex I deficiency
Green NDUFA1 in Possible mitochondrial disorder - nuclear genes Version 3.106 Latest signed off version: v3.105 (1 May 2024)	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources NHS GMS Expert Review Green Phenotypes Mitochondrial complex I deficiency, nuclear type 12, 301020
Red NDUFA1 in Fetal anomalies Version 4.1 Latest signed off version: v4.0 (1 May 2024)	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red PAGE DD-Gene2Phenotype Phenotypes MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY
Green NDUFA1 in DDG2P Version 4.3 Latest signed off version: v4.0 (1 May 2024) Component of the following Super Panels: Paediatric disorders	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY 252010
Green NDUFA1 in Early onset or syndromic epilepsy Level 3: Inherited Epilepsy Syndromes Level 2: Neurology and neurodevelopmental disorders Version 5.10 Latest signed off version: v5.0 (1 May 2024) Component of the following Super Panels: Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial complex I deficiency, 252010
Green NDUFA1 in Intellectual disability Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 6.13 Latest signed off version: v6.0 (1 May 2024) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes Mitochondrial complex I deficiency, 252010 MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY (NUCLEAR GENES)
Green NDUFA1 in Mitochondrial disorders Level 3: Mitochondrial Level 2: Metabolic disorders Version 6.4 Latest signed off version: v6.0 (1 May 2024) Component of the following Super Panels: Childhood onset leukodystrophy	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Victorian Clinical Genetics Services Expert Review Green Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Expert list Expert Phenotypes Isolated complex I deficiency Mitochondrial complex I deficiency, 252010 Mitochondrial Diseases
Red NDUFA1 in Adult onset dystonia, chorea or related movement disorder Version 3.19 Latest signed off version: v3.12 (31 Jul 2023)	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Red NHS GMS London North GLH Phenotypes Mitochondrial complex I deficiency
Amber NDUFA1 in Paediatric or syndromic cardiomyopathy Version 4.3 Latest signed off version: v4.0 (1 May 2024) Component of the following Super Panels: Unexplained death in infancy and sudden unexplained death in childhood	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Amber MetBioNet NHS GMS Phenotypes Mitochondrial complex I deficiency, nuclear type 12, 301020
Green NDUFA1 in Childhood onset dystonia, chorea or related movement disorder Version 4.3 Latest signed off version: v4.0 (1 May 2024)	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources PanelApp Expert Review Green London North GLH Phenotypes Mitochondrial complex I deficiency 252010
Green NDUFA1 in Severe Paediatric Disorders Version 1.184	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Mitochondrial complex I deficiency, nuclear type 12, 301020