Mitochondrial disorders AD Victorian Clinical Genetics Services
Gene: NDUFS7EnsemblGeneIds (GRCh38): ENSG00000115286
EnsemblGeneIds (GRCh37): ENSG00000115286
OMIM: 601825, Gene2Phenotype
NDUFS7 is in 16 panels
0 reviews
Details
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- OMIM
- 601825
- Clinvar variants
- Variants in NDUFS7
- Penetrance
- None
- Panels with this gene
-
- Structural basal ganglia disorders
- White matter disorders and cerebral calcification - narrow panel
- Fetal anomalies
- DDG2P
- Undiagnosed metabolic disorders
- Childhood onset dystonia, chorea or related movement disorder
- Mitochondrial disorders
- Inherited white matter disorders
- Early onset or syndromic epilepsy
- Optic neuropathy
- Paediatric or syndromic cardiomyopathy
- Mitochondrial disorder with complex I deficiency
- Likely inborn error of metabolism
- Possible mitochondrial disorder - nuclear genes
- Intellectual disability
- Adult onset dystonia, chorea or related movement disorder
History Filter Activity
Added New Source
Sarah Leigh (Genomics England Curator)NDUFS7 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)NDUFS7 was created by Sarah Leigh