NDUFA10

NADH:ubiquinone oxidoreductase subunit A10
OMIM: 603835, Gene2Phenotype

14 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 14 panels
Green NDUFA10 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
Amber NDUFA10 in Optic neuropathy Level 2: Ophthalmology Version 5.48 Latest signed off version: v5.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Research Literature Phenotypes Mitochondrial complex I deficiency, nuclear type 22, OMIM:618243 mitochondrial complex I deficiency, nuclear type 22, MONDO:0032626 Optic neuropathy, HP:0001138 Tags Q4_25_promote_green Q4_25_NHS_review
Green NDUFA10 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 22, 618243
Green NDUFA10 in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.642	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, 256000 Mitochondrial Diseases Mitochondrial Respiratory Chain Complex I Deficiency
Green NDUFA10 in Likely inborn error of metabolism Level 2: Metabolic Version 8.91 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 Mitochondrial Diseases Isolated complex I deficiency Leigh syndrome, 256000 Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits) Mitochondrial Respiratory Chain Complex I Deficiency
Green NDUFA10 in Possible mitochondrial disorder - nuclear genes Level 2: Mitochondrial Version 4.20 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 22, 618243
Amber NDUFA10 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber PAGE DD-Gene2Phenotype Phenotypes LEIGH SYNDROME DUP
Green NDUFA10 in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green DD-Gene2Phenotype Phenotypes LEIGH SYNDROME DUP 256000
Green NDUFA10 in Early onset or syndromic epilepsy Level 2: Neurology Version 8.120 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
Red NDUFA10 in Intellectual disability Level 2: Developmental disorders Version 9.279 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 Gene2Phenotype Phenotypes Leigh syndrome, 256000 Leigh disease with leukodystrophy Nuclear Gene-Encoded Leigh syndrome
Green NDUFA10 in Mitochondrial disorders Level 2: Mitochondrial Version 9.41 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 Diseases Mitochondrial Respiratory Chain Complex I Deficiency
Red NDUFA10 in Adult onset dystonia, chorea or related movement disorder Level 2: Neurology Version 5.3 Latest signed off version: v5.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS London North GLH Phenotypes Leigh syndrome
Amber NDUFA10 in Paediatric or syndromic cardiomyopathy Level 2: Cardiology Version 7.96 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 22, 618243
Green NDUFA10 in Childhood onset dystonia, chorea or related movement disorder Level 2: Neurology Version 7.13 Latest signed off version: v7.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources PanelApp Expert Review Green London North GLH Phenotypes Leigh syndrome 256000