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Fetal anomalies

Gene: NDUFV1

Red List (low evidence)

NDUFV1 (NADH:ubiquinone oxidoreductase core subunit V1)
EnsemblGeneIds (GRCh38): ENSG00000167792
EnsemblGeneIds (GRCh37): ENSG00000167792
OMIM: 161015, Gene2Phenotype
NDUFV1 is in 13 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Red List (low evidence)

>20 unrelated probands reported thus far and PMID:34807224 provides phenotypic and genotype summary

Onset in infancy and hypotonia, developmental delay, regression, seizures and brain atrophy are some of the main features
Created: 31 Jan 2022, 1:35 a.m. | Last Modified: 31 Jan 2022, 1:35 a.m.
Panel Version: 0.2951

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex I deficiency, nuclear type 4 MIM#618225

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 4 MIM#618225
OMIM
161015
Clinvar variants
Variants in NDUFV1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Feb 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ndufv1 has been classified as Red List (Low Evidence).

2 Feb 2022, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NDUFV1 were changed from MITOCHONDRIAL COMPLEX I DEFICIENCY to Mitochondrial complex I deficiency, nuclear type 4 MIM#618225

2 Feb 2022, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: NDUFV1 were set to

24 Oct 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NDUFV1 was added gene: NDUFV1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: NDUFV1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFV1 were set to MITOCHONDRIAL COMPLEX I DEFICIENCY