This Panel is marked as Internal
Dystonia - childhood onset
Gene: NDUFA10
NDUFA10 (NADH:ubiquinone oxidoreductase subunit A10)
EnsemblGeneIds (GRCh38): ENSG00000130414
EnsemblGeneIds (GRCh37): ENSG00000130414
OMIM: 603835, Gene2Phenotype
NDUFA10 is in 14 panels
EnsemblGeneIds (GRCh38): ENSG00000130414
EnsemblGeneIds (GRCh37): ENSG00000130414
OMIM: 603835, Gene2Phenotype
NDUFA10 is in 14 panels
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Leigh syndrome 256000
- OMIM
- 603835
- Clinvar variants
- Variants in NDUFA10
- 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
19 Dec 2018, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: NDUFA10 was added gene: NDUFA10 was added to Dystonia - childhood onset. Sources: Expert Review Green Mode of inheritance for gene: NDUFA10 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDUFA10 were set to 21150889; 28247337; 26741492 Phenotypes for gene: NDUFA10 were set to Leigh syndrome 256000