1. Genes and Genomic Entities
  2. NDUFA9

NDUFA9

NADH:ubiquinone oxidoreductase subunit A9
OMIM: 603834, Gene2Phenotype

11 panels

Panel Reviews Mode of inheritance Details
11 panels
Red NDUFA9 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 Red
  • Literature
Phenotypes
  • Leigh syndrome due to mitochondrial complex I deficiency 256000
Green NDUFA9 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
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 26, 618247
Red NDUFA9 in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.642

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • Literature
Phenotypes
  • Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits)
  • Leigh syndrome due to mitochondrial complex I deficiency, 256000
Green NDUFA9 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
    • Expert Review Green
    • Expert Review Green
    • NHS GMS
    • London North GLH
    • NHS GMS
    • Victorian Clinical Genetics Services
    Phenotypes
    • Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits)
    • Leigh syndrome due to mitochondrial complex I deficiency, 256000 -3
    • Isolated complex I deficiency
    • Mitochondrial complex I deficiency, nuclear type 26, 618247
    • Leigh syndrome due to mitochondrial complex I deficiency, 256000
    Green NDUFA9 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
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Mitochondrial complex I deficiency, nuclear type 26, 618247
    Red NDUFA9 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
    • DD-Gene2Phenotype
    • Expert Review Red
    Phenotypes
    • LEIGH SYNDROME 256000
    Red NDUFA9 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 due to mitochondrial complex I deficiency, 256000
    • Leigh disease with leukodystrophy
    • Nuclear Gene-Encoded Leigh syndrome
    Green NDUFA9 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
    • Expert Review Green
    • NHS GMS
    • Victorian Clinical Genetics Services
    • Radboud University Medical Center, Nijmegen
    • Expert list
    • Expert
    Phenotypes
    • Mitochondrial complex I deficiency, nuclear type 26, 618247
    Red NDUFA9 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
    • NHS GMS
    • South West GLH
    • Expert Review Red
    Phenotypes
    • Mitochondrial complex I deficiency, nuclear type 26, 618247
    • Leigh syndrome due to mitochondrial complex I deficiency
    Red NDUFA9 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 Red
    • MetBioNet
    • NHS GMS
    Phenotypes
    • Mitochondrial complex I deficiency, nuclear type 26, 618247
    Red NDUFA9 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
    • South West GLH
    Phenotypes
    • Mitochondrial complex I deficiency, nuclear type 26, 618247
    • Leigh syndrome due to mitochondrial complex I deficiency 256000