NDUFC1

NADH:ubiquinone oxidoreductase subunit C1
OMIM: 603844, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Amber NDUFC1 in Mitochondrial disorder with complex I deficiency


Version 3.8
Latest signed off version: v3.0 (22 Mar 2023)

review Unknown
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Red NDUFC1 in Likely inborn error of metabolism - targeted testing not possible


Version 4.137
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood
  • review Unknown
    Sources
    • Expert Review Red
    Phenotypes
    • No OMIM phenotype
    • Isolated complex I deficiency
    Amber NDUFC1 in Possible mitochondrial disorder - nuclear genes


    Version 3.105
    Latest signed off version: v3.0 (22 Mar 2023)

    review Unknown
    Sources
    • Expert Review Amber
    • NHS GMS
    Phenotypes
    • No OMIM phenotype
    Red NDUFC1 in Mitochondrial disorders

    Level 3: Mitochondrial
    Level 2: Metabolic disorders
    Version 4.168
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • review Not set
    Sources
    • Radboud University Medical Center, Nijmegen
    • Expert list
    Phenotypes
    • Isolated complex I deficiency
    • No OMIM phenotype