1. Genes and Genomic Entities
  2. NDUFB3

NDUFB3

NADH:ubiquinone oxidoreductase subunit B3
OMIM: 603839, Gene2Phenotype

9 panels

Panel Reviews Mode of inheritance Details
9 panels
Green NDUFB3 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
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 25, OMIM:618246
Green NDUFB3 in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.643

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 25, OMIM:618246
Green NDUFB3 in Likely inborn error of metabolism


Level 2: Metabolic
Version 8.100
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 BIALLELIC, autosomal or pseudoautosomal
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Mitochondrial complex I deficiency, nuclear type 25, OMIM:618246
    Green NDUFB3 in Possible mitochondrial disorder - nuclear genes


    Level 2: Mitochondrial
    Version 4.23
    Latest signed off version: v4.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Mitochondrial complex I deficiency, nuclear type 25, OMIM:618246
    Green NDUFB3 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.157
    Latest signed off version: v6.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Mitochondrial complex I deficiency, nuclear type 25, OMIM:618246
    Green NDUFB3 in DDG2P


    Version 6.426
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • NDUFB3-associated mitochondrial complex I deficiency, OMIM:618246
    Green NDUFB3 in Mitochondrial disorders


    Level 2: Mitochondrial
    Version 9.46
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Expert list
    • Expert
    Phenotypes
    • Mitochondrial complex I deficiency, nuclear type 25, OMIM:618246
    Amber NDUFB3 in Paediatric or syndromic cardiomyopathy


    Level 2: Cardiology
    Version 7.98
    Latest signed off version: v7.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • MetBioNet
    • NHS GMS
    Phenotypes
    • Mitochondrial complex I deficiency, nuclear type 25, OMIM:618246
    Red NDUFB3 in Childhood onset dystonia, chorea or related movement disorder


    Level 2: Neurology
    Version 7.17
    Latest signed off version: v7.0 (30 Apr 2025)

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