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  3. COX11
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Intellectual disability

Gene: COX11

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

3 reviews

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 v4.142

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 v4.142

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Created: 3 May 2024, 11:55 a.m. | Last Modified: 3 May 2024, 11:55 a.m.
Panel Version: 6.11
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Created: 9 Jan 2024, 10:28 a.m. | Last Modified: 9 Jan 2024, 10:28 a.m.
Panel Version: 5.382
The three unrelated case of Mitochondrial complex IV deficiency, nuclear type 23 (OMIM:620275) so far reported, all had significant cognitive impairment and 2/3 of the cases had hypotonia (PMID: 36030551;38068960).
Created: 9 Jan 2024, 10:27 a.m. | Last Modified: 9 Jan 2024, 10:27 a.m.
Panel Version: 5.380
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 v4.142

Details

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

History Filter Activity

3 May 2024, Gel status: 3

Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q4_23_promote_green was removed from gene: COX11.

3 May 2024, Gel status: 3

Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Green was added to COX11. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

9 Jan 2024, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

9 Jan 2024, Gel status: 2

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

Sarah Leigh (Genomics England Curator)

gene: COX11 was added gene: COX11 was added to Intellectual disability - microarray and sequencing. Sources: NHS GMS,Expert Review Amber Q4_23_promote_green tags were added to gene: COX11. 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