This Panel is marked as Deleted
Mitochondrial disorders AD Victorian Clinical Genetics Services
Gene: NDUFA2
NDUFA2 (NADH:ubiquinone oxidoreductase subunit A2)
EnsemblGeneIds (GRCh38): ENSG00000131495
EnsemblGeneIds (GRCh37): ENSG00000131495
OMIM: 602137, Gene2Phenotype
NDUFA2 is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000131495
EnsemblGeneIds (GRCh37): ENSG00000131495
OMIM: 602137, Gene2Phenotype
NDUFA2 is in 13 panels
0 reviews
Details
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- OMIM
- 602137
- Clinvar variants
- Variants in NDUFA2
- Penetrance
- None
- Panels with this gene
-
- Structural basal ganglia disorders
- Intellectual disability
- Early onset or syndromic epilepsy
- Mitochondrial disorders
- Mitochondrial disorder with complex I deficiency
- White matter disorders and cerebral calcification - narrow panel
- Possible mitochondrial disorder - nuclear genes
- Childhood onset dystonia, chorea or related movement disorder
- Undiagnosed metabolic disorders
- Paediatric or syndromic cardiomyopathy
- Inherited white matter disorders
- Likely inborn error of metabolism
- Adult onset dystonia, chorea or related movement disorder
History Filter Activity
12 Jun 2018, Gel status: 4
Added New Source
Sarah Leigh (Genomics England Curator)NDUFA2 was added to Mitochondrial disorders AD Victorian Clinical Genetics Services panel. Sources: Expert Review Green,Victorian Clinical Genetics Services
12 Jun 2018, Gel status: 4
Created
Sarah Leigh (Genomics England Curator)NDUFA2 was created by Sarah Leigh