This Panel is marked as Internal
Dystonia - childhood onset
Gene: NDUFV1
NDUFV1 (NADH:ubiquinone oxidoreductase core subunit V1)
EnsemblGeneIds (GRCh38): ENSG00000167792
EnsemblGeneIds (GRCh37): ENSG00000167792
OMIM: 161015, Gene2Phenotype
NDUFV1 is in 16 panels
EnsemblGeneIds (GRCh38): ENSG00000167792
EnsemblGeneIds (GRCh37): ENSG00000167792
OMIM: 161015, Gene2Phenotype
NDUFV1 is in 16 panels
0 reviews
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Mitochondrial complex I deficiency, 252010
- OMIM
- 161015
- Clinvar variants
- Variants in NDUFV1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Structural basal ganglia disorders
- Childhood onset dystonia, chorea or related movement disorder
- Undiagnosed metabolic disorders
- Intellectual disability
- Inherited white matter disorders
- Optic neuropathy
- Mitochondrial disorders
- Fetal anomalies
- Paediatric or syndromic cardiomyopathy
- Likely inborn error of metabolism
- Possible mitochondrial disorder - nuclear genes
- Adult onset dystonia, chorea or related movement disorder
- DDG2P
- White matter disorders and cerebral calcification - narrow panel
- Mitochondrial disorder with complex I deficiency
- Early onset or syndromic epilepsy
History Filter Activity
9 Jan 2019, Gel status: 4
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked against super panel made up of the panel constituents. Ready to promote to version 1
9 Jan 2019, Gel status: 4
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for gene: NDUFV1 were changed from to Mitochondrial complex I deficiency, 252010
19 Dec 2018, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set publications
Eleanor Williams (Genomics England Curator)gene: NDUFV1 was added gene: NDUFV1 was added to Dystonia - childhood onset. Sources: Expert Review Green Mode of inheritance for gene: NDUFV1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDUFV1 were set to 10080174; 26345448