Possible mitochondrial disorder - nuclear genes
Gene: NDUFV2
NDUFV2 (NADH:ubiquinone oxidoreductase core subunit V2)
EnsemblGeneIds (GRCh38): ENSG00000178127
EnsemblGeneIds (GRCh37): ENSG00000178127
OMIM: 600532, Gene2Phenotype
NDUFV2 is in 11 panels
EnsemblGeneIds (GRCh38): ENSG00000178127
EnsemblGeneIds (GRCh37): ENSG00000178127
OMIM: 600532, Gene2Phenotype
NDUFV2 is in 11 panels
3 reviews
Ivone Leong (Genomics England Curator)
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)
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Mitochondrial complex I deficiency, nuclear type 7, 618229
- OMIM
- 600532
- Clinvar variants
- Variants in NDUFV2
- Penetrance
- None
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- White matter disorders and cerebral calcification - narrow panel
- Mitochondrial disorders
- Possible mitochondrial disorder - nuclear genes
- DDG2P
- Paediatric or syndromic cardiomyopathy
- Optic neuropathy
- Fetal anomalies
- Undiagnosed metabolic disorders
- Mitochondrial disorder with complex I deficiency
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