Mitochondrial disorder with complex IV deficiency
Gene: COX11
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.Created: 9 Jan 2024, 10:10 a.m. | Last Modified: 9 Jan 2024, 10:10 a.m.
Panel Version: 3.11
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, 10:05 a.m. | Last Modified: 9 Jan 2024, 10:05 a.m.
Panel Version: 3.10
Updated information and Amber review collated by Carl Fratter May 2019 on behalf of GMS mitochondrial specialist test group: no reports of human disease; complex IV subunitCreated: 10 May 2019, 11:13 a.m.
Mode of inheritance
Unknown
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, 11:58 a.m.
Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently 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, 11:38 a.m.
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: COX11; Suggested intial gene rating: Green.Created: 1 Feb 2019, 4:34 p.m.
Mode of inheritance
Unknown
Phenotypes
No OMIM phenotype
Gene: cox11 has been classified as Amber List (Moderate Evidence).
Tag Q4_23_promote_green tag was added to gene: COX11.
Mode of inheritance for gene: COX11 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COX11 were set to 36030551; 38068960
Publications for gene: COX11 were set to 36030551
Publications for gene: COX11 were set to
Mode of inheritance for gene: COX11 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COX11 were changed from No OMIM phenotype to Mitochondrial complex IV deficiency, nuclear type 23, OMIM:620275; Mitochondrial complex IV deficiency, nuclear type 23, MONDO:0859520
Gene: cox11 has been classified as Amber List (Moderate Evidence).
Gene: cox11 has been classified as Amber List (Moderate Evidence).
gene: COX11 was added gene: COX11 was added to Mitochondrial disorder with complex IV deficiency. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: COX11 was set to Unknown Phenotypes for gene: COX11 were set to No OMIM phenotype