Mitochondrial disorder with complex IV deficiency
Gene: COX15
Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group. Gene Symbol submitted: COX15; Suggested intial gene rating: Green; Information provided: Mode of inheritance and phenotype.Created: 1 Feb 2019, 4:34 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, 615119; Leigh syndrome due to cytochrome c oxidase deficiency, 256000
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: COX15 were changed from Leigh syndrome due to cytochrome c oxidase deficiency, 256000; Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, 615119 to Mitochondrial complex IV deficiency, nuclear type 6, OMIM:615119
gene: COX15 was added gene: COX15 was added to Mitochondrial disorder with complex IV deficiency. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: COX15 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COX15 were set to Leigh syndrome due to cytochrome c oxidase deficiency, 256000; Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, 615119