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Possible mitochondrial disorder - nuclear genes

Gene: NDUFV3

Amber List (moderate evidence)

NDUFV3 (NADH:ubiquinone oxidoreductase subunit V3)
EnsemblGeneIds (GRCh38): ENSG00000160194
EnsemblGeneIds (GRCh37): ENSG00000160194
OMIM: 602184, Gene2Phenotype
NDUFV3 is in 4 panels

4 reviews

Carl Fratter (Oxford University Hospitals NHS Trust)

I don't know

Updated information and Amber review collated by Carl Fratter May 2019 on behalf of GMS mitochondrial specialist test group: no reports of human disease; complex I subunit
Created: 10 May 2019, 1:02 p.m.

Mode of inheritance

No OMIM phenotype


  • none found

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.
Created: 4 Feb 2019, 1:36 p.m.

Mode of inheritance

No OMIM phenotype

Ellen McDonagh (Genomics England Curator)

Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.141) - further evidence needs to be submitted to support promoting this gene family member to Green.
Created: 29 Mar 2019, 2 p.m.
Comment on list classification: Candidate gene.
Created: 10 Feb 2016, 9:16 a.m.

Shamima Rahman (UCL Institute of Child Health)

I don't know

no pathogenic mutations reported to date but good candidate gene for mitochondrial complex I deficiency
Created: 3 Feb 2016, 5:31 p.m.


Mode of Inheritance
  • Expert Review Amber
  • No OMIM phenotype
Clinvar variants
Variants in NDUFV3
Panels with this gene

History Filter Activity

29 Mar 2019, Gel status: 2

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: ndufv3 has been classified as Amber List (Moderate Evidence).

4 Feb 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: NDUFV3 was added gene: NDUFV3 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: NDUFV3 was set to Unknown Phenotypes for gene: NDUFV3 were set to No OMIM phenotype