Inherited white matter disorders
Gene: COQ9Comment on list classification: Probably relevant but insufficient evidence as only 1 family reported so keep as amber until further families.Created: 6 Oct 2016, 9:30 a.m.
Comment on list classification: Gene rated green and diagnostic-grade by expert reviewer, confirmed DD gene for COENZYME Q10 DEFICIENCY. Only case reported in OMIM, and no additional cases found in a literature search. 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, 1:54 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
6th Oct 2016: Panel promoted to version 1 after expert review and input, further curation and clinical input.
This gene has been classified as Amber List (Moderate Evidence).
This gene has been classified as Amber List (Moderate Evidence).
Phenotypes for COQ9 were set to Mitochondrial Leukoencephalopathy;Coenzyme Q10 deficiency, primary, 5;General Leukodystrophy & Mitochondrial Leukoencephalopathy
Publications for COQ9 were set to 19375058; 25655951
This gene has been classified as Amber List (Moderate Evidence).
COQ9 was added to Inherited white matter disorderspanel. Sources: Expert list
COQ9 was created by [email protected]