1. Genes and Genomic Entities
  2. NDUFAF8

NDUFAF8

NADH:ubiquinone oxidoreductase complex assembly factor 8
Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels
Amber NDUFAF8 in Optic neuropathy


Level 2: Ophthalmology
Version 6.51
Latest signed off version: v6.46 (12 Aug 2026)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Research
  • Literature
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 34, OMIM:618776
Tags
  • Q2_26_promote_green
  • Q2_26_NHS_review
Green NDUFAF8 in Mitochondrial disorder with complex I deficiency


Level 2: Mitochondrial
Version 4.3
Latest signed off version: v4.2 (12 Aug 2026)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 34, OMIM:618776
Green NDUFAF8 in Likely inborn error of metabolism


Level 2: Metabolic
Version 9.30
Latest signed off version: v9.29 (12 Aug 2026)

Component of the following Super Panels:

  • Hypotonic infant
  • Leukodystrophy, childhood onset
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Mitochondrial complex I deficiency, nuclear type 34, OMIM:618776
    Green NDUFAF8 in Possible mitochondrial disorder, nuclear genes


    Level 2: Mitochondrial
    Version 5.23
    Latest signed off version: v5.17 (12 Aug 2026)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Mitochondrial complex I deficiency, nuclear type 34, OMIM:618776
    Green NDUFAF8 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 8.5
    Latest signed off version: v8.0 (12 Aug 2026)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Mitochondrial complex I deficiency, nuclear type 34, OMIM:618776
    Green NDUFAF8 in DDG2P


    Version 8.1
    Latest signed off version: v8.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • NDUFAF8-related Leigh Syndrome
    Green NDUFAF8 in Mitochondrial disorders


    Level 2: Mitochondrial
    Version 10.23
    Latest signed off version: v10.18 (12 Aug 2026)

    Component of the following Super Panels:

  • Leukodystrophy, childhood onset

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Mitochondrial complex I deficiency, nuclear type 34, OMIM:618776
    Red NDUFAF8 in Paediatric or syndromic cardiomyopathy


    Level 2: Cardiology
    Version 8.7
    Latest signed off version: v8.4 (12 Aug 2026)

    Component of the following Super Panels:

  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • MetBioNet
    • NHS GMS
    Phenotypes
    • Mitochondrial complex I deficiency, nuclear type 34, OMIM:618776