Mitochondrial disorders AD Victorian Clinical Genetics Services
Gene: NDUFS4EnsemblGeneIds (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
- Intellectual disability
- Mitochondrial disorders
- White matter disorders and cerebral calcification - narrow panel
- Possible mitochondrial disorder - nuclear genes
- DDG2P
- Undiagnosed metabolic disorders
- Fetal anomalies
- Paediatric or syndromic cardiomyopathy
- Inherited white matter disorders
- Early onset or syndromic epilepsy
- Mitochondrial disorder with complex I deficiency
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Adult onset dystonia, chorea or related movement disorder
History Filter Activity
Added New Source
Sarah Leigh (Genomics England Curator)NDUFS4 was added to Mitochondrial disorders AD Victorian Clinical Genetics Services panel. Sources: Expert Review Green,Victorian Clinical Genetics Services
Created
Sarah Leigh (Genomics England Curator)NDUFS4 was created by Sarah Leigh