This Panel is marked as Internal
Dystonia - childhood onset
Gene: NDUFS3
NDUFS3 (NADH:ubiquinone oxidoreductase core subunit S3)
EnsemblGeneIds (GRCh38): ENSG00000213619
EnsemblGeneIds (GRCh37): ENSG00000213619
OMIM: 603846, Gene2Phenotype
NDUFS3 is in 11 panels
EnsemblGeneIds (GRCh38): ENSG00000213619
EnsemblGeneIds (GRCh37): ENSG00000213619
OMIM: 603846, Gene2Phenotype
NDUFS3 is in 11 panels
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Phenotypes
-
- Mitochondrial complex I deficiency 252010
- Leigh syndrome due to mitochondrial complex I deficiency 256000
- OMIM
- 603846
- Clinvar variants
- Variants in NDUFS3
- Penetrance
- None
- 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
- Intellectual disability
- Optic neuropathy
- Mitochondrial disorder with complex I deficiency
History Filter Activity
9 Jan 2019, Gel status: 1
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Eleanor Williams: Updated to green when making t
19 Dec 2018, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: NDUFS3 was added gene: NDUFS3 was added to Dystonia - childhood onset. Sources: Expert Review Red Mode of inheritance for gene: NDUFS3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFS3 were set to Mitochondrial complex I deficiency 252010; Leigh syndrome due to mitochondrial complex I deficiency 256000