This Panel is marked as Internal
Dystonia - childhood onset
Gene: NDUFAF6
NDUFAF6 (NADH:ubiquinone oxidoreductase complex assembly factor 6)
EnsemblGeneIds (GRCh38): ENSG00000156170
EnsemblGeneIds (GRCh37): ENSG00000156170
OMIM: 612392, Gene2Phenotype
NDUFAF6 is in 9 panels
EnsemblGeneIds (GRCh38): ENSG00000156170
EnsemblGeneIds (GRCh37): ENSG00000156170
OMIM: 612392, Gene2Phenotype
NDUFAF6 is in 9 panels
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Leigh syndrome due to mitochondrial complex I deficiency 256000
- OMIM
- 612392
- Clinvar variants
- Variants in NDUFAF6
- Penetrance
- None
- Publications
- Panels with this gene
-
- Mitochondrial disorders
- Structural basal ganglia disorders
- Paediatric or syndromic cardiomyopathy
- Likely inborn error of metabolism
- Childhood onset dystonia, chorea or related movement disorder
- Possible mitochondrial disorder - nuclear genes
- Adult onset dystonia, chorea or related movement disorder
- Undiagnosed metabolic disorders
- Mitochondrial disorder with complex I deficiency
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
19 Dec 2018, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: NDUFAF6 was added gene: NDUFAF6 was added to Dystonia - childhood onset. Sources: Expert Review Green Mode of inheritance for gene: NDUFAF6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDUFAF6 were set to 18614015; 27623250; 26741492 Phenotypes for gene: NDUFAF6 were set to Leigh syndrome due to mitochondrial complex I deficiency 256000