Inherited white matter disorders
Gene: SCO1EnsemblGeneIds (GRCh38): ENSG00000133028
EnsemblGeneIds (GRCh37): ENSG00000133028
OMIM: 603644, Gene2Phenotype
SCO1 is in 14 panels
2 reviews
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Gene rated green and diagnostic-grade by expert reviewer. Associated with phenotype in OMIM and G2P. Six variants reported. On the Minimum recommended gene list for broad spectrum genetic testing for single-nucleotide variants associated with leukodystrophies and genetic leukoencephalopathies reported in PMID: 25655951.Created: 24 Aug 2016, 1:33 p.m.
Ian Berry (Leeds Genetics Laboratory)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
General Leukodystrophy & Mitochondrial Leukoencephalopathy
Publications
- Parikh et al. Molecular Genetics and Metabolism 114 (2015) 501_664
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Mitochondrial complex IV deficiency, nuclear type 4, OMIM:619048
- OMIM
- 603644
- Clinvar variants
- Variants in SCO1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Early onset or syndromic epilepsy
- Fetal anomalies
- Mitochondrial liver disease, including transient infantile liver failure
- Childhood onset dystonia, chorea or related movement disorder
- Paediatric or syndromic cardiomyopathy
- Mitochondrial disorders
- Likely inborn error of metabolism
- Undiagnosed metabolic disorders
- Intellectual disability
- DDG2P
- Mitochondrial disorder with complex IV deficiency
- Inherited white matter disorders
- White matter disorders and cerebral calcification - narrow panel
- Possible mitochondrial disorder - nuclear genes
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: SCO1 were changed from Mitochondrial complex IV deficiency 220110 to Mitochondrial complex IV deficiency, nuclear type 4, OMIM:619048
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)6th Oct 2016: Panel promoted to version 1 after expert review and input, further curation and clinical input.
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for SCO1 were set to Mitochondrial complex IV deficiency 220110
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Sarah Leigh (Genomics England Curator)Publications for SCO1 were set to 25655951; 23878101; 19353847
Upload gene information
Sarah Leigh (Genomics England Curator)SCO1 was added to Inherited white matter disorderspanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
Added New Source
Ian Berry (Leeds Genetics Laboratory)SCO1 was added to Inherited white matter disorderspanel. Sources: Expert list
Created
Ian Berry (Leeds Genetics Laboratory)SCO1 was created by [email protected]