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  3. NDUFV2
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Leukodystrophy - paediatric

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

1 review

Michelle Torres (Victorian Clinical Genetics Services)

Green List (high evidence)

Three missense mutations were identified in 2 unrelated and nonconsanguineous families with progressive cavitating leukoencephalopathy. The 1st family (WGS) has 2 homozygous siblings with p.(Ala183Thr), and 2nd family (WES) has 2 cHet siblings with p.(Leu156His) and p.(C135Ser). Complex I deficiency was confirmed in affected individuals’ fibroblasts and a muscle
biopsy. Functional and structural analyses revealed that these mutations affect the structural stability and function of the NDUFV2 protein.
Sources: Literature
Created: 5 May 2022, 2:01 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex I deficiency, nuclear type 7 (MIM#618229)

Publications

Created: 5 May 2022, 2:01 a.m.

Panel version: 0.263

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 7 (MIM#618229)
OMIM
600532
Clinvar variants
Variants in NDUFV2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 May 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ndufv2 has been classified as Green List (High Evidence).

5 May 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ndufv2 has been classified as Green List (High Evidence).

5 May 2022, Gel status: 0

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

Michelle Torres (Victorian Clinical Genetics Services)

gene: NDUFV2 was added gene: NDUFV2 was added to Leukodystrophy - paediatric. Sources: Literature Mode of inheritance for gene: NDUFV2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDUFV2 were set to 33811136 Phenotypes for gene: NDUFV2 were set to Mitochondrial complex I deficiency, nuclear type 7 (MIM#618229) Review for gene: NDUFV2 was set to GREEN