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Gene: NDUFV1

Green List (high evidence)

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

1 review

Lauren Thomas (VIctorian Clinical Genetics Services)

Green List (high evidence)

Isolated complex I deficiency is the most common enzymatic defect of the oxidative phosphorylation disorders (McFarland et al., 2004; Kirby et al., 2004). It causes a wide range of clinical disorders, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Clin Gen definitive gene-disease association: Leigh syndrome

HGNC approved symbol/name: NDUFV1
Is the phenotype(s) severe and onset <18yo? Yes
Known technical challenges? No
Gene reported in 3 independent families: Yes
Created: 6 Feb 2025, 5:55 a.m. | Last Modified: 6 Feb 2025, 5:55 a.m.
Panel Version: 1.1459

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
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

7 Feb 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ndufv1 has been classified as Green List (High Evidence).

7 Feb 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NDUFV1 were changed from Mitochondrial complex I deficiency, 252010 (3) to Mitochondrial complex I deficiency, nuclear type 4 MIM#618225

7 Feb 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: NDUFV1 were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Mitochondrial complex I deficiency, 252010 (3) for gene: NDUFV1

1 Jun 2022, Gel status: 3

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 Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: NDUFV1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFV1 were set to Mitochondrial complex I deficiency, 252010 (3)