Mitochondrial disorders Victorian Clinical Genetics Services
Gene: NDUFS2EnsemblGeneIds (GRCh38): ENSG00000158864
EnsemblGeneIds (GRCh37): ENSG00000158864
OMIM: 602985, Gene2Phenotype
NDUFS2 is in 13 panels
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Details
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- OMIM
- 602985
- Clinvar variants
- Variants in NDUFS2
- Penetrance
- None
- Panels with this gene
-
- Familial Meniere Disease
- Paediatric or syndromic cardiomyopathy
- Mitochondrial disorder with complex I deficiency
- Mitochondrial disorders
- Early onset or syndromic epilepsy
- Undiagnosed metabolic disorders
- Intellectual disability
- Inherited white matter disorders
- White matter disorders and cerebral calcification - narrow panel
- Childhood onset dystonia, chorea or related movement disorder
- Possible mitochondrial disorder - nuclear genes
- Optic neuropathy
- Likely inborn error of metabolism
History Filter Activity
Added New Source
Sarah Leigh (Genomics England Curator)NDUFS2 was added to Mitochondrial disorders Victorian Clinical Genetics Services panel. Sources: Expert Review Green,Victorian Clinical Genetics Services
Created
Sarah Leigh (Genomics England Curator)NDUFS2 was created by Sarah Leigh