NDUFB7

NADH:ubiquinone oxidoreductase subunit B7
OMIM: 603842, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber NDUFB7 in Mendeliome


Version 1.1902

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Mitochondrial complex I deficiency nuclear type 39 (MC1DN39), MIM#620135
  • Congenital lactic acidosis
  • hypertrophic cardiomyopathy

Amber NDUFB7 in Mitochondrial disease


Level 2: Metabolic disorders
Version 0.927

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Congenital lactic acidosis
    • hypertrophic cardiomyopathy

    Amber NDUFB7 in Cardiomyopathy_Paediatric


    Level 2: Cardiovascular disorders
    Version 0.192

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert Review
    Phenotypes
    • Mitochondrial complex I deficiency nuclear type 39 (MC1DN39), MIM#620135