1. Genes and Genomic Entities
  2. NDUFB4

NDUFB4

NADH:ubiquinone oxidoreductase subunit B4
OMIM: 603840, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Amber NDUFB4 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 Amber
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Red NDUFB4 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 Unknown
    Sources
    • Expert Review Red
    Phenotypes
    • No OMIM phenotype
    • Isolated complex I deficiency
    Amber NDUFB4 in Possible mitochondrial disorder - nuclear genes


    Level 2: Mitochondrial
    Version 4.20
    Latest signed off version: v4.0 (30 Apr 2025)

    		review Unknown
    Sources
    • Expert Review Amber
    • NHS GMS
    Phenotypes
    • No OMIM phenotype
    Red NDUFB4 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 Not set
    Sources
    • Radboud University Medical Center, Nijmegen
    • Expert list
    Phenotypes
    • Isolated complex I deficiency
    • No OMIM phenotype