Possible mitochondrial disorder - nuclear genes
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, 10:11 a.m. | Last Modified: 9 Jan 2024, 10:11 a.m.
Panel Version: 3.81
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: 3.80
Two unrelated patients with two different homozygous variants + functional studies (p.Ala244Pro and p.Val12Glyfs*21)Created: 23 Aug 2023, 1:03 p.m. | Last Modified: 23 Aug 2023, 1:03 p.m.
Panel Version: 3.48
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex IV deficiency, nuclear type 23
Publications
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, 1:02 p.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, 1:29 p.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 1.151) - further evidence needs to be submitted to support promoting this gene family member to Green.Created: 29 Mar 2019, 2:26 p.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.Created: 4 Feb 2019, 1:36 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. Tag Q4_23_NHS_review 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
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 Possible mitochondrial disorder - nuclear genes. 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