Genes in panel
STRs in panel
Prev Next

Inborn errors of metabolism

Gene: NDUFV2

Green List (high evidence)

NDUFV2 (NADH:ubiquinone oxidoreductase core subunit V2)
EnsemblGeneIds (GRCh38): ENSG00000178127
EnsemblGeneIds (GRCh37): ENSG00000178127
OMIM: 600532, Gene2Phenotype
NDUFV2 is in 7 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: Confirmed on OMIM.
Created: 8 Feb 2016, 2:57 p.m.
Comment on list classification: Expert review suggests this gene should be promoted from amber.
Created: 8 Feb 2016, 2:55 p.m.

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Mitochondrial complex I deficiency, 252010
  • Isolated complex I deficiency
  • Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits)
  • Mitochondrial Respiratory Chain Complex I Deficiency
OMIM
600532
Clinvar variants
Variants in NDUFV2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to NDUFV2. Source London North GLH was added to NDUFV2.

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ellen McDonagh: Comment on mode of pathogenici

16 Dec 2018, Gel status: 4

Set Phenotypes, Set publications

Ellen McDonagh (Genomics England Curator)

Added phenotypes Mitochondrial complex I deficiency, 252010; Mitochondrial Respiratory Chain Complex I Deficiency; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Isolated complex I deficiency for gene: NDUFV2 Publications for gene NDUFV2 were changed from to 27604308

16 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: NDUFV2 was added gene: NDUFV2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: NDUFV2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFV2 were set to Mitochondrial complex I deficiency, 252010; Mitochondrial Respiratory Chain Complex I Deficiency; Isolated complex I deficiency