This Panel is marked as Internal
Dystonia - childhood onset
Gene: NDUFAF2
NDUFAF2 (NADH:ubiquinone oxidoreductase complex assembly factor 2)
EnsemblGeneIds (GRCh38): ENSG00000164182
EnsemblGeneIds (GRCh37): ENSG00000164182
OMIM: 609653, Gene2Phenotype
NDUFAF2 is in 14 panels
EnsemblGeneIds (GRCh38): ENSG00000164182
EnsemblGeneIds (GRCh37): ENSG00000164182
OMIM: 609653, Gene2Phenotype
NDUFAF2 is in 14 panels
0 reviews
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Mitochondrial complex I deficiency, nuclear type 10, 618233
- OMIM
- 609653
- Clinvar variants
- Variants in NDUFAF2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Possible mitochondrial disorder - nuclear genes
- Adult onset dystonia, chorea or related movement disorder
- Undiagnosed metabolic disorders
- Intellectual disability
- DDG2P
- Optic neuropathy
- Mitochondrial disorder with complex I deficiency
- Early onset or syndromic epilepsy
- Mitochondrial disorders
- Fetal anomalies
- Structural basal ganglia disorders
- Paediatric or syndromic cardiomyopathy
- Likely inborn error of metabolism
- Childhood onset dystonia, chorea or related movement disorder
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: NDUFAF2 were changed from to Mitochondrial complex I deficiency, nuclear type 10, 618233
19 Dec 2018, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set publications
Eleanor Williams (Genomics England Curator)gene: NDUFAF2 was added gene: NDUFAF2 was added to Dystonia - childhood onset. Sources: Expert Review Green Mode of inheritance for gene: NDUFAF2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDUFAF2 were set to 16200211; 20571988; 20818383