Early onset or syndromic epilepsy
Gene: COX10
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
Leigh syndrome due to mitochondrial COX4 deficiency, 256000 ; Mitochondrial; Mitochondrial complex IV deficiency, 220110
Publications
Comment when marking as ready: Based on reviewers' comments.Created: 11 Dec 2018, 4:47 p.m.
Seizures are a feature in some patients with this multi-system mitochondrial disorder.Created: 12 Aug 2018, 5:35 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex IV deficiency, MIM#220110
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: COX10 were changed from to Mitochondrial complex IV deficiency, nuclear type 3, OMIM:619046
Mode of inheritance for gene: COX10 was changed from to BIALLELIC, autosomal or pseudoautosomal
Source Wessex and West Midlands GLH was added to COX10.
Source NHS GMS was added to COX10.
Zornitza Stark: Seizures are a feature in some
Gene: cox10 has been classified as Amber List (Moderate Evidence).
Expert Review Amber was added to COX10. Panel: Genetic Epilepsy Syndromes
COX10 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services
COX10 was created by Sarah Leigh