This Panel is marked as Internal
Paediatric or syndromic cardiomyopathy - previous panel
Gene: SCO2
SCO2 (SCO2, cytochrome c oxidase assembly protein)
EnsemblGeneIds (GRCh38): ENSG00000130489
EnsemblGeneIds (GRCh37): ENSG00000130489
OMIM: 604272, Gene2Phenotype
SCO2 is in 15 panels
EnsemblGeneIds (GRCh38): ENSG00000130489
EnsemblGeneIds (GRCh37): ENSG00000130489
OMIM: 604272, Gene2Phenotype
SCO2 is in 15 panels
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- South West GLH
- OMIM
- 604272
- Clinvar variants
- Variants in SCO2
- Penetrance
- None
- Panels with this gene
-
- 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
- Hereditary neuropathy or pain disorder
- Early onset or syndromic epilepsy
- Hypertrophic cardiomyopathy
- Fetal anomalies
- DDG2P
- Mitochondrial disorder with complex IV deficiency
- White matter disorders and cerebral calcification - narrow panel
History Filter Activity
21 Feb 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance
Ellen McDonagh (Genomics England Curator)gene: SCO2 was added gene: SCO2 was added to Paediatric or syndromic cardiomyopathy. Sources: South West GLH Mode of inheritance for gene: SCO2 was set to BIALLELIC, autosomal or pseudoautosomal