Mitochondrial disorders Victorian Clinical Genetics Services
Gene: SCO2EnsemblGeneIds (GRCh38): ENSG00000130489
EnsemblGeneIds (GRCh37): ENSG00000130489
OMIM: 604272, Gene2Phenotype
SCO2 is in 15 panels
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Details
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- OMIM
- 604272
- Clinvar variants
- Variants in SCO2
- Penetrance
- None
- Panels with this gene
-
- Undiagnosed metabolic disorders
- Intellectual disability
- Inherited white matter disorders
- Hereditary neuropathy or pain disorder
- Childhood onset dystonia, chorea or related movement disorder
- Paediatric or syndromic cardiomyopathy
- Fetal anomalies
- Mitochondrial disorders
- Early onset or syndromic epilepsy
- Hypertrophic cardiomyopathy
- DDG2P
- Mitochondrial disorder with complex IV deficiency
- White matter disorders and cerebral calcification - narrow panel
- Possible mitochondrial disorder - nuclear genes
- Likely inborn error of metabolism
History Filter Activity
Added New Source
Sarah Leigh (Genomics England Curator)SCO2 was added to Mitochondrial disorders Victorian Clinical Genetics Services panel. Sources: Expert Review Green,Victorian Clinical Genetics Services
Created
Sarah Leigh (Genomics England Curator)SCO2 was created by Sarah Leigh