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Possible mitochondrial disorder - nuclear genes

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 8 panels

3 reviews

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
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex I deficiency, nuclear type 7, 618229

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)

History Filter Activity

4 Feb 2019, Gel status: 4

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

Ivone Leong (Genomics England Curator)

gene: NDUFV2 was added gene: NDUFV2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: NDUFV2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFV2 were set to Mitochondrial complex I deficiency, nuclear type 7, 618229