Inherited white matter disorders
Gene: COX10Comment on list classification: Gene rated green and diagnostic-grade by expert reviewer, confirmed DD gene for Mitochondrial complex IV disorder. More than 3 cases reported on OMIM from different studies, with different variants. 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 for Mitochondrial complex IV disorders. Green gene in the Mitochondrial panel version 1.7.Created: 25 Aug 2016, 2:34 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: COX10 were changed from Mitochondrial complex IV disorder; Mitochondrial Leukoencephalopathy; General Leukodystrophy & Mitochondrial Leukoencephalopathy to Mitochondrial complex IV deficiency, nuclear type 3, OMIM:619046; General Leukodystrophy & Mitochondrial Leukoencephalopathy
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).
Publications for COX10 were set to 24100867; 25655951;12928484
Publications for COX10 were set to 24100867;25655951
Publications for COX10 were set to 24100867
This gene has been classified as Green List (High Evidence).
Phenotypes for COX10 were set to Mitochondrial complex IV disorder;Mitochondrial Leukoencephalopathy;General Leukodystrophy & Mitochondrial Leukoencephalopathy
COX10 was created by [email protected]
COX10 was added to Inherited white matter disorderspanel. Sources: Expert list