This Panel is marked as Deleted
Epileptic encephalopathy Victorian Clinical Genetics Services
Gene: NDUFS4
NDUFS4 (NADH:ubiquinone oxidoreductase subunit S4)
EnsemblGeneIds (GRCh38): ENSG00000164258
EnsemblGeneIds (GRCh37): ENSG00000164258
OMIM: 602694, Gene2Phenotype
NDUFS4 is in 15 panels
EnsemblGeneIds (GRCh38): ENSG00000164258
EnsemblGeneIds (GRCh37): ENSG00000164258
OMIM: 602694, Gene2Phenotype
NDUFS4 is in 15 panels
0 reviews
Details
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- OMIM
- 602694
- Clinvar variants
- Variants in NDUFS4
- Penetrance
- None
- Panels with this gene
-
- Structural basal ganglia disorders
- Childhood onset dystonia, chorea or related movement disorder
- Undiagnosed metabolic disorders
- Inherited white matter disorders
- Mitochondrial disorders
- Paediatric or syndromic cardiomyopathy
- Likely inborn error of metabolism
- Intellectual disability
- Possible mitochondrial disorder - nuclear genes
- Early onset or syndromic epilepsy
- Adult onset dystonia, chorea or related movement disorder
- Fetal anomalies
- DDG2P
- White matter disorders and cerebral calcification - narrow panel
- Mitochondrial disorder with complex I deficiency
History Filter Activity
12 Jun 2018, Gel status: 4
Added New Source
Sarah Leigh (Genomics England Curator)NDUFS4 was added to Epileptic encephalopathy 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)NDUFS4 was created by Sarah Leigh