Genes in panel
STRs in panel
Prev Next

Cardiomyopathies - including childhood onset

Gene: COX10

Green List (high evidence)

COX10 (COX10, heme A:farnesyltransferase cytochrome c oxidase assembly factor)
EnsemblGeneIds (GRCh38): ENSG00000006695
EnsemblGeneIds (GRCh37): ENSG00000006695
OMIM: 602125, Gene2Phenotype
COX10 is in 19 panels

3 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Created: 2 Dec 2019, 3:58 p.m. | Last Modified: 2 Dec 2019, 3:58 p.m.
Panel Version: 0.16
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: COX10; Suggested intial gene rating: Green. Mode of inheritance and phenotype.
Created: 1 Feb 2019, 4:34 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex IV deficiency, 220110

Carl Fratter (Oxford University Hospitals NHS Trust)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Variants in this GENE are reported as part of current diagnostic practice

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

History Filter Activity

9 Sep 2019, Gel status: 3

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

Ivone Leong (Genomics England Curator)

gene: COX10 was added gene: COX10 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet Mode of inheritance for gene: COX10 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COX10 were set to Mitochondrial complex IV deficiency, 220110