NDUFA11

NADH:ubiquinone oxidoreductase subunit A11
OMIM: 612638, Gene2Phenotype

9 panels

Panel Reviews Mode of inheritance Details
9 panels

Green NDUFA11 in Mitochondrial disorder with complex I deficiency


Version 1.3
Signed off v.1.2 on 17 Feb 2020

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 14, 618236

Green NDUFA11 in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.413

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
  • Mitochondrial complex I deficiency, 252010
  • Mitochondrial Diseases
  • Mitochondrial Respiratory Chain Complex I Deficiency

Green NDUFA11 in Inborn errors of metabolism


Version 2.4
Signed off v.2.3 on 17 Feb 2020

Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • 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 NDUFA11 in Possible mitochondrial disorder - nuclear genes


    Version 1.14
    Signed off v.1.13 on 17 Feb 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Mitochondrial complex I deficiency, nuclear type 14, 618236

    Red NDUFA11 in Genetic epilepsy syndromes

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.3
    Signed off v.2.2 on 13 Feb 2020

    review Not set
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • Expert Review Red
    • Victorian Clinical Genetics Services
    Phenotypes
    • Mitochondrial complex I deficiency 252010

    Red NDUFA11 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.3
    Signed off v.3.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review Not set
    Sources
    • Expert Review Red
    • Expert Review Red
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Mitochondrial complex I deficiency 252010

    Green NDUFA11 in Mitochondrial disorders

    Level 3: Mitochondrial
    Level 2: Metabolic disorders
    Version 2.5
    Signed off v.2.4 on 17 Feb 2020

    Component of the following Super Panels:

  • White matter disorders - childhood onset
  • 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
    • Mitochondrial complex I deficiency, 252010
    • Mitochondrial Diseases
    • Mitochondrial Respiratory Chain Complex I Deficiency

    Green NDUFA11 in Cardiomyopathies - including childhood onset


    Version 1.5
    Signed off v.1.4 on 19 Feb 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • MetBioNet
    • Expert Review Green
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Mitochondrial complex I deficiency, nuclear type 14, 618236

    Red NDUFA11 in Childhood onset dystonia or chorea or related movement disorder


    Version 1.3
    Signed off v.1.2 on 25 Feb 2020

    review Not set
    Sources
    • Expert Review Red
    • London North GLH