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Mitochondrial disease

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

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

>20 unrelated probands reported thus far and PMID:34807224 provides phenotypic and genotype summary
Created: 31 Jan 2022, 1:21 a.m. | Last Modified: 31 Jan 2022, 1:21 a.m.
Panel Version: 0.10812

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

Created: 31 Jan 2022, 1:21 a.m.
Last Modified: 31 Jan 2022, 1:21 a.m.
Panel version: Imported from Mendeliome panel version 0.10812

History Filter Activity

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NDUFV1 was added gene: NDUFV1 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: NDUFV1 was set to Unknown