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Mitochondrial disease

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

3 reviews

Krithika Murali (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID 30770271 - Zhang et al 2019 - report 2 unrelated individuals with biallelic variants and progressive cavitating leukoencephalopathy

PMID 33811136 Liu et al 2021 - describe 4 individuals from 2 unrelated families with progressive cavitating leukoencephalopathy, recurring episodes of acute/subacute developmental regression in the first years
of life, followed by gradual remissions and prolonged periods of stability. Variant specific supportive functional evidence provided. MRI brain features - cystic changes in cerebral white matter, with corpus callosum involvement reported in 2 siblings.

PMID 34405929 Kishita et al 2021 - report two unrelated individuals with biallelic variants
Created: 22 Mar 2022, 8:04 p.m. | Last Modified: 22 Mar 2022, 8:04 p.m.
Panel Version: 0.746

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Borderline Green rating. The intronic variant is the commonest variant reported so far, with minimal evidence of other variants being disease-causing. There are at least two more reported in ClinVar, however note most variants have been classified as VOUS or lower.
Created: 24 Sep 2020, 8 a.m. | Last Modified: 24 Sep 2020, 8 a.m.
Panel Version: 0.501

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Ain Roesley (Victorian Clinical Genetics Services)

I don't know

PMID: 12754703
- 3 siblings of African ancestry, homozygous for a splice variant IVS2+5_+8delGTTA

PMID: 19167255;
- 1x patient homozygous for the same splice variant as above.

PMID: 26008862; (2 families)
- 2 siblings cHet for the splice variant above + a truncating variant
- 2 siblings homozygous for the same splice variant

*Splice variant proven to lead to exon 2 skipping
Created: 21 Sep 2020, 12:01 a.m. | Last Modified: 21 Sep 2020, 12:01 a.m.
Panel Version: 0.498

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 7 (MIM#618229)
Tags
deep intronic founder
OMIM
600532
Clinvar variants
Variants in NDUFV2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 Mar 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: NDUFV2 were set to 12754703; 19167255; 26008862

24 Sep 2020, 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).

24 Sep 2020, Gel status: 3

Added Tag, Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag deep intronic tag was added to gene: NDUFV2. Tag founder tag was added to gene: NDUFV2.

24 Sep 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: NDUFV2 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal

24 Sep 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NDUFV2 were changed from to Mitochondrial complex I deficiency, nuclear type 7 (MIM#618229)

24 Sep 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: NDUFV2 were set to

24 Sep 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: NDUFV2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NDUFV2 was added gene: NDUFV2 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services Mode of inheritance for gene: NDUFV2 was set to Unknown