Mitochondrial disorders
Gene: SCO2EnsemblGeneIds (GRCh38): ENSG00000130489
EnsemblGeneIds (GRCh37): ENSG00000130489
OMIM: 604272, Gene2Phenotype
SCO2 is in 15 panels
2 reviews
Carl Fratter (Oxford University Hospitals NHS Trust)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Shamima Rahman (UCL Institute of Child Health)
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Victorian Clinical Genetics Services
- Illumina TruGenome Clinical Sequencing Services
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Expert list
- Expert
- Phenotypes
-
- Isolated complex IV deficiency
- Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377
- Myopia 6, 608908
- Mitochondrial Diseases
- Mitochondrial Respiratory Chain Complex IV Deficiency
- OMIM
- 604272
- Clinvar variants
- Variants in SCO2
- Penetrance
- Complete
- Panels with this gene
-
- White matter disorders and cerebral calcification - narrow panel
- Mitochondrial disorders
- Early onset or syndromic epilepsy
- DDG2P
- Intellectual disability
- Inherited white matter disorders
- Likely inborn error of metabolism
- Possible mitochondrial disorder - nuclear genes
- Hypertrophic cardiomyopathy
- Paediatric or syndromic cardiomyopathy
- Mitochondrial disorder with complex IV deficiency
- Fetal anomalies
- Hereditary neuropathy or pain disorder
- Undiagnosed metabolic disorders
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Set Phenotypes
Rebecca Foulger (Genomics England curator)Phenotypes for gene: SCO2 were changed from Isolated complex IV deficiency; Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377Myopia 6, 608908; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex IV Deficiency to Isolated complex IV deficiency; Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377; Myopia 6, 608908; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex IV Deficiency
Added New Source
Sarah Leigh (Genomics England Curator)Victorian Clinical Genetics Services was added to SCO2. Panel: Mitochondrial disorders
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene SCO2 was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)SCO2 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene SCO2 was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)SCO2 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene SCO2 was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)SCO2 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene SCO2 was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)SCO2 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services
Added New Source
Ellen McDonagh (Genomics England Curator)SCO2 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services