Mitochondrial disorder with complex IV deficiency
Gene: COX4I1Comment 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
GMS to consider whether there is now sufficient evidence for this gene to be greenCreated: 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 studiesCreated: 10 May 2019, 11:13 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
OMIM #619060
Publications
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
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.
no reports of mutations in literatureCreated: 3 Feb 2016, 5:15 p.m.
Tag for-review was removed from gene: COX4I1. Tag Q2_21_rating was removed from gene: COX4I1.
Source Expert Review Green was added to COX4I1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag Q2_21_rating tag was added to gene: COX4I1.
Tag for-review tag was added to gene: COX4I1.
Phenotypes for gene: COX4I1 were changed from No OMIM phenotype to Mitochondrial complex IV deficiency, nuclear type 16, OMIM:619060
Publications for gene: COX4I1 were set to 28766551
Gene: cox4i1 has been classified as Amber List (Moderate Evidence).
Gene: cox4i1 has been classified as Amber List (Moderate Evidence).
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