Inherited white matter disorders
Gene: SCO1Comment 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.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
General Leukodystrophy & Mitochondrial Leukoencephalopathy
Publications
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: SCO1 were changed from Mitochondrial complex IV deficiency 220110 to Mitochondrial complex IV deficiency, nuclear type 4, OMIM:619048
6th Oct 2016: Panel promoted to version 1 after expert review and input, further curation and clinical input.
This gene has been classified as Green List (High Evidence).
Phenotypes for SCO1 were set to Mitochondrial complex IV deficiency 220110
This gene has been classified as Green List (High Evidence).
Publications for SCO1 were set to 25655951; 23878101; 19353847
SCO1 was added to Inherited white matter disorderspanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
SCO1 was added to Inherited white matter disorderspanel. Sources: Expert list
SCO1 was created by [email protected]