1. Genes and Genomic Entities
  2. NDUFA5

NDUFA5

NADH:ubiquinone oxidoreductase subunit A5
OMIM: 601677, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Amber NDUFA5 in Mitochondrial disorder with complex I deficiency


Level 2: Mitochondrial
Version 4.1
Latest signed off version: v4.0 (6 May 2026)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • mitochondrial complex I deficiency, MONDO:0100133
Tags
  • Q2_26_promote_green
Amber NDUFA5 in Likely inborn error of metabolism


Level 2: Metabolic
Version 9.7
Latest signed off version: v9.0 (6 May 2026)

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
    • Expert Review Amber
    Phenotypes
    • mitochondrial complex I deficiency, MONDO:0100133
    Tags
    • Q2_26_promote_green
    Amber NDUFA5 in Possible mitochondrial disorder - nuclear genes


    Level 2: Mitochondrial
    Version 5.4
    Latest signed off version: v5.0 (6 May 2026)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • NHS GMS
    Phenotypes
    • mitochondrial complex I deficiency, MONDO:0100133
    Tags
    • Q2_26_promote_green
    • Q2_26_NHS_review
    Amber NDUFA5 in Mitochondrial disorders


    Level 2: Mitochondrial
    Version 10.4
    Latest signed off version: v10.0 (6 May 2026)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Radboud University Medical Center, Nijmegen
    • Expert list
    Phenotypes
    • mitochondrial complex I deficiency, MONDO:0100133
    Tags
    • Q2_26_promote_green