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Mitochondrial disorder with complex IV deficiency

Gene: COX4I1

Green List (high evidence)
COX4I1 (cytochrome c oxidase subunit 4I1)
EnsemblGeneIds (GRCh38): ENSG00000131143
EnsemblGeneIds (GRCh37): ENSG00000131143
OMIM: 123864, Gene2Phenotype
COX4I1 is in 4 panels

5 reviews

Sarah Leigh (Genomics England Curator)

Comment from NHS Genomic Medicine Service: patients have Leigh syndrome like brain lesions and encephalopathy as well as lactic acidosis and decreased mitochondrial respiratory chain complex IV in tissue.
Created: 3 Mar 2022, 2:07 p.m. | Last Modified: 3 Mar 2022, 2:07 p.m.
Panel Version: 1.13
The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 3 Mar 2022, 2:05 p.m. | Last Modified: 3 Mar 2022, 2:05 p.m.
Panel Version: 1.13
Created: 3 Mar 2022, 2:05 p.m.
Last Modified: 3 Mar 2022, 2:05 p.m.
Panel version: 1.13

Carl Fratter (Oxford University Hospitals NHS Trust)

I don't know

GMS to consider whether there is now sufficient evidence for this gene to be green
Created: 27 Jan 2021, 9:41 a.m. | Last Modified: 27 Jan 2021, 9:41 a.m.
Panel Version: 1.8
Updated information and Amber review collated by Carl Fratter May 2019 on behalf of GMS mitochondrial specialist test group: 1 case and functional studies
Created: 10 May 2019, 11:13 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
OMIM #619060

Publications

Created: 10 May 2019, 11:13 a.m.

Panel version: 1.8

Ivone Leong (Genomics England Curator)

Green List (high evidence)

This gene is associated with a relevant phenotype in OMIM and not Gene2Phenotype. Based on the fact that there are now 2 unrelated cases and functional studies there is enough evidence for this gene to be Green.
Created: 1 Feb 2021, 3:33 p.m. | Last Modified: 1 Feb 2021, 3:33 p.m.
Panel Version: 1.10
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. Gene Symbol submitted: COX4I1; Suggested intial gene rating: Green; Information provided: Mode of inheritance and publication.
Created: 1 Feb 2019, 4:34 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
No OMIM phenotype

Publications

Created: 1 Feb 2019, 4:34 p.m.

Panel version: 1.10

Ellen McDonagh (Genomics England Curator)

Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Created: 10 May 2019, noon
Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Created: 29 Mar 2019, 11:40 a.m.
Comment on list classification: Demoted to red as the evidence for this gene is uncertain.
Created: 8 Feb 2016, 11:27 a.m.
Created: 8 Feb 2016, 11:27 a.m.

Panel version: Imported from Mitochondrial disorders panel version 0.43

Shamima Rahman (UCL Institute of Child Health)

I don't know

no reports of mutations in literature
Created: 3 Feb 2016, 5:15 p.m.
Created: 3 Feb 2016, 5:15 p.m.

Panel version: Imported from Mitochondrial disorders panel version 0.16

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Mitochondrial complex IV deficiency, nuclear type 16, OMIM:619060
OMIM
123864
Clinvar variants
Variants in COX4I1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Mar 2022, Gel status: 3

Removed Tag, Removed Tag

Sarah Leigh (Genomics England Curator)

Tag for-review was removed from gene: COX4I1. Tag Q2_21_rating was removed from gene: COX4I1.

3 Mar 2022, Gel status: 3

Added New Source, Status Update

Sarah Leigh (Genomics England Curator)

Source Expert Review Green was added to COX4I1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

11 Aug 2021, Gel status: 2

Added Tag

Ivone Leong (Genomics England Curator)

Tag Q2_21_rating tag was added to gene: COX4I1.

1 Feb 2021, Gel status: 2

Added Tag

Ivone Leong (Genomics England Curator)

Tag for-review tag was added to gene: COX4I1.

1 Feb 2021, Gel status: 2

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: COX4I1 were changed from No OMIM phenotype to Mitochondrial complex IV deficiency, nuclear type 16, OMIM:619060

1 Feb 2021, Gel status: 2

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: COX4I1 were set to 28766551

10 May 2019, Gel status: 2

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: cox4i1 has been classified as Amber List (Moderate Evidence).

29 Mar 2019, Gel status: 2

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: cox4i1 has been classified as Amber List (Moderate Evidence).

1 Feb 2019, Gel status: 4

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

Ivone Leong (Genomics England Curator)

gene: COX4I1 was added gene: COX4I1 was added to Mitochondrial disorder with complex IV deficiency. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: COX4I1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COX4I1 were set to 28766551 Phenotypes for gene: COX4I1 were set to No OMIM phenotype