Mitochondrial disorders
Gene: COA3The 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
Single affected individual reported.Created: 18 Mar 2020, 6:53 a.m. | Last Modified: 18 Mar 2020, 6:53 a.m.
Panel Version: 2.5
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex IV deficiency
Publications
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Comment on list classification: Seems to be one report, and one reviewer is unsure whether this should be on the green list.Created: 26 Feb 2016, 3:51 p.m.
Gene added during review by Carl Fratter (Oxford University Hospitals NHS Trust).Created: 13 Nov 2015, 3:09 p.m.
Source Expert Review Red was added to COA3. Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Victorian Clinical Genetics Services was added to COA3. Panel: Mitochondrial disorders
This gene has been classified as Amber List (Moderate Evidence).
COA3 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert Review
This proposed gene was validated and added to this panel
COA3 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Literature