Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Mackenzie's Mission_Reproductive Carrier Screening

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 10 panels

0 reviews

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mitochondrial complex I deficiency, 252010 (3)
OMIM
600532
Clinvar variants
Variants in NDUFV2
Penetrance
None
Panels with this gene

History Filter Activity

19 Apr 2020, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NDUFV2 was added gene: NDUFV2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,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 (3)