Early onset or syndromic epilepsy
Gene: COX15
Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: Alison Callaway and John Taylor. Suggested gene rating: Amber.Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189
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
Publications
Comment when marking as ready: Based on reviewers' comments.Created: 11 Dec 2018, 4:47 p.m.
Small number of families described, seizures sometimes a feature.Created: 12 Aug 2018, 5:49 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2; MIM#615119 and Leigh syndrome #256000
Publications
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: COX15 were changed from Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 615119; Leigh syndrome 256000 to Mitochondrial complex IV deficiency, nuclear type 6, OMIM:615119
Source Wessex and West Midlands GLH was added to COX15.
Source NHS GMS was added to COX15.
Zornitza Stark: Small number of families descr
Gene: cox15 has been classified as Amber List (Moderate Evidence).
Mode of inheritance for gene: COX15 was changed from to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COX15 were changed from to Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 615119; Leigh syndrome 256000
Publications for gene: COX15 were set to
Expert Review Amber was added to COX15. Panel: Genetic Epilepsy Syndromes
COX15 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services
COX15 was created by Sarah Leigh