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  3. COX10
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Early onset or syndromic epilepsy

Gene: COX10

Amber List (moderate evidence)
COX10 (COX10, heme A:farnesyltransferase cytochrome c oxidase assembly factor)
EnsemblGeneIds (GRCh38): ENSG00000006695
EnsemblGeneIds (GRCh37): ENSG00000006695
OMIM: 602125, Gene2Phenotype
COX10 is in 19 panels

4 reviews

Rebecca Foulger (Genomics England curator)

I don't know

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
Created: 6 Aug 2019, 8:38 p.m.
Last Modified: 6 Aug 2019, 8:38 p.m.
Panel version: 1.189

Tracy Lester (Genetics laboratory, Oxford UK)

I don't know

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leigh syndrome due to mitochondrial COX4 deficiency, 256000 ; Mitochondrial; Mitochondrial complex IV deficiency, 220110

Publications

Created: 6 Aug 2019, 8:31 p.m.
Last Modified: 6 Aug 2019, 8:31 p.m.
Panel version: 1.188

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Based on reviewers' comments.
Created: 11 Dec 2018, 4:47 p.m.
Created: 11 Dec 2018, 4:47 p.m.

Panel version: 0.1589

Zornitza Stark (Australian Genomics)

I don't know

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

Created: 12 Aug 2018, 5:35 a.m.

Panel version: 0.315

History Filter Activity

21 Dec 2022, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: COX10 were changed from to Mitochondrial complex IV deficiency, nuclear type 3, OMIM:619046

21 Dec 2022, Gel status: 2

Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

Mode of inheritance for gene: COX10 was changed from to BIALLELIC, autosomal or pseudoautosomal

6 Aug 2019, Gel status: 2

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to COX10.

6 Aug 2019, Gel status: 2

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to COX10.

11 Dec 2018, Gel status: 2

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Zornitza Stark: Seizures are a feature in some

11 Dec 2018, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: cox10 has been classified as Amber List (Moderate Evidence).

25 Jun 2018, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

Expert Review Amber was added to COX10. Panel: Genetic Epilepsy Syndromes

25 Jun 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

COX10 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services

25 Jun 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

COX10 was created by Sarah Leigh