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  3. COX11
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Likely inborn error of metabolism

Gene: COX11

Amber List (moderate evidence)
COX11 (COX11, cytochrome c oxidase copper chaperone)
EnsemblGeneIds (GRCh38): ENSG00000166260
EnsemblGeneIds (GRCh37): ENSG00000166260
OMIM: 603648, Gene2Phenotype
COX11 is in 6 panels

4 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

Comment on list classification: This gene should be added with green rating to this panel as this gene has already been promoted to green rating on Mitochondrial disorders panel (https://panelapp.genomicsengland.co.uk/panels/112/gene/COX11/)
Created: 6 Jun 2025, 3:37 p.m. | Last Modified: 6 Jun 2025, 3:38 p.m.
Panel Version: 8.17

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 6 Jun 2025, 3:37 p.m.
Last Modified: 6 Jun 2025, 3:38 p.m.
Panel version: 8.17

Arina Puzriakova (Genomics England Curator)

The rating of this gene has been updated from Amber to Red following NHS Genomic Medicine Service approval.
Created: 29 Jul 2022, 1:47 p.m. | Last Modified: 29 Jul 2022, 1:47 p.m.
Panel Version: 2.109
Created: 29 Jul 2022, 1:47 p.m.
Last Modified: 29 Jul 2022, 1:47 p.m.
Copied from panel: Mitochondrial disorders v9.15

Zornitza Stark (Australian Genomics)

Red List (low evidence)

Cannot find evidence for Mendelian gene-disease association.
Created: 18 Mar 2020, 7:07 a.m. | Last Modified: 18 Mar 2020, 7:07 a.m.
Panel Version: 2.5
Created: 18 Mar 2020, 7:07 a.m.
Last Modified: 18 Mar 2020, 7:07 a.m.
Copied from panel: Mitochondrial disorders v9.15

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green and the mode of inheritance updated to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Created: 2 May 2024, 10:34 a.m. | Last Modified: 2 May 2024, 10:34 a.m.
Panel Version: 6.3
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Created: 9 Jan 2024, 10:11 a.m. | Last Modified: 9 Jan 2024, 10:11 a.m.
Panel Version: 4.143
COX11 variants have been associated with Mitochondrial complex IV deficiency, nuclear type 23 (OMIM:620275), but not with a phenotype in Gen2Phen. At least four COX11 variants have been reported in three unrelated cases of OMIM:620275 (PMIDs: 36030551;38068960), together with supportive functional studies in patient's fibroblasts and Saccharomyces cerevisiae.
Created: 9 Jan 2024, 10:06 a.m. | Last Modified: 9 Jan 2024, 10:06 a.m.
Panel Version: 4.141
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.
Created: 23 Jul 2019, 10:13 a.m. | Last Modified: 23 Jul 2019, 10:13 a.m.
Panel Version: 1.412

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 23 Jul 2019, 10:13 a.m.
Last Modified: 23 Jul 2019, 10:13 a.m.
Copied from panel: Mitochondrial disorders v9.15

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Mitochondrial complex IV deficiency, nuclear type 23, OMIM:620275
  • Mitochondrial complex IV deficiency, nuclear type 23, MONDO:0859520
Tags
Q2_25_ promote_green
OMIM
603648
Clinvar variants
Variants in COX11
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Jun 2025, Gel status: 2

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

Gene: cox11 has been classified as Amber List (Moderate Evidence).

6 Jun 2025, Gel status: 3

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q2_25_ promote_green tag was added to gene: COX11.

6 Jun 2025, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

gene: COX11 was added gene: COX11 was added to Likely inborn error of metabolism. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: COX11 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COX11 were set to 36030551; 38068960 Phenotypes for gene: COX11 were set to Mitochondrial complex IV deficiency, nuclear type 23, OMIM:620275; Mitochondrial complex IV deficiency, nuclear type 23, MONDO:0859520