Inherited white matter disorders
Gene: COX15Comment on list classification: More than 3 cases reported in OMIM. Phenotypic variation associated with variants in this gene has been reported.Created: 26 Aug 2016, 9:13 a.m.
Comment on list classification: Gene rated green and diagnostic-grade by expert reviewer and is a confirmed DD gene for Mitochondrial complex IV disorder. 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 and ID panel version 1.2.Created: 12 Aug 2016, 2:33 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: COX15 were changed from Mitochondrial Leukoencephalopathy; Mitochondrial complex IV disorders to Mitochondrial complex IV deficiency, nuclear type 6, OMIM:615119; 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 COX15 were set to Mitochondrial Leukoencephalopathy;Mitochondrial complex IV disorders
This gene has been classified as Green List (High Evidence).
This gene has been classified as Amber List (Moderate Evidence).
This gene has been classified as Amber List (Moderate Evidence).
Publications for COX15 were set to 25655951
This gene has been classified as Green List (High Evidence).
COX15 was created by [email protected]
COX15 was added to Inherited white matter disorderspanel. Sources: Expert list