NDUFB7

NADH:ubiquinone oxidoreductase subunit B7
OMIM: 603842, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green NDUFB7 in Mendeliome


Version 1.4224

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

Green NDUFB7 in Mitochondrial disease


Level 2: Metabolic disorders
Version 1.12

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • 2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Mitochondrial complex I deficiency nuclear type 39 (MC1DN39), MIM#620135

    Green NDUFB7 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.641

    2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    • Literature
    Phenotypes
    • Mitochondrial complex I deficiency nuclear type 39 (MC1DN39), MIM#620135

    Amber NDUFB7 in Cardiomyopathy_Paediatric


    Level 2: Cardiovascular disorders
    Version 0.217

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