Mitochondrial disorders
Gene: COX11The 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
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
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
Gene: cox11 has been classified as Amber List (Moderate Evidence).
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
Phenotypes for gene: COX11 were changed from Mitochondrial complex IV deficiency, nuclear type 23, OMIM:620275; Mitochondrial complex IV deficiency, nuclear type 23, MONDO:0859520 to Mitochondrial complex IV deficiency, nuclear type 23, OMIM:620275; Mitochondrial complex IV deficiency, nuclear type 23, MONDO:0859520
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
Source Expert Review Red was added to COX11. Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
gene: COX11 was added gene: COX11 was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: COX11 was set to Unknown Phenotypes for gene: COX11 were set to No OMIM phenotype