Inherited white matter disorders
Gene: COQ2Comment on list classification: Gene rated green and diagnostic-grade by expert reviewer, confirmed DD gene for COENZYME Q10 DEFICIENCY, more than 3 cases with different variants reported in OMIM. 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 Coenzyme Q10 deficiency, primary, 1. Green gene in the Mitochondrial panel version 1.7.Created: 12 Aug 2016, 1:46 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: COQ2 were changed from Coenzyme Q10 deficiency, primary, 1; Mitochondrial Leukoencephalopathy; General Leukodystrophy & Mitochondrial Leukoencephalopathy to Coenzyme Q10 deficiency, primary, 1, OMIM:607426; 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).
Phenotypes for COQ2 were set to Coenzyme Q10 deficiency, primary, 1;Mitochondrial Leukoencephalopathy;General Leukodystrophy & Mitochondrial Leukoencephalopathy
Publications for COQ2 were set to 25655951
This gene has been classified as Green List (High Evidence).
COQ2 was added to Inherited white matter disorderspanel. Sources: Expert list
COQ2 was created by [email protected]