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  3. NDUFV3
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Mitochondrial disorders

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.
Created: 10 Feb 2016, 9:16 a.m.

Panel version: 0.76

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.
Created: 3 Feb 2016, 5:31 p.m.

Panel version: 0.16

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Isolated complex I deficiency
  • No OMIM phenotype
  • Mitochondrial Diseases
OMIM
602184
Clinvar variants
Variants in NDUFV3
Penetrance
Complete
Panels with this gene

History Filter Activity

10 Feb 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

10 Feb 2016, Gel status: 1

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for NDUFV3 was changed to Unknown

10 Feb 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

30 Jun 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

NDUFV3 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert list,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory

30 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

NDUFV3 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert list,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory

30 Jun 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

NDUFV3 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert list,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory