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Inborn errors of metabolism

Gene: NDUFV3

Red List (low evidence)

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

2 reviews

Ellen McDonagh (Genomics England Curator)

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.

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Mitochondrial Diseases
  • No OMIM phenotype
  • Isolated complex I deficiency
OMIM
602184
Clinvar variants
Variants in NDUFV3
Penetrance
None
Panels with this gene

History Filter Activity

8 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with phenotype in O

16 Dec 2018, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: NDUFV3 was added gene: NDUFV3 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: NDUFV3 was set to Unknown Phenotypes for gene: NDUFV3 were set to Mitochondrial Diseases; No OMIM phenotype; Isolated complex I deficiency