Mitochondrial disorders
Gene: COA3EnsemblGeneIds (GRCh38): ENSG00000183978
EnsemblGeneIds (GRCh37): ENSG00000183978
OMIM: 614775, Gene2Phenotype
COA3 is in 6 panels
5 reviews
Arina Puzriakova (Genomics England Curator)
The 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
Zornitza Stark (Australian Genomics)
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
Carl Fratter (Oxford University Hospitals NHS Trust)
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)
Ellen McDonagh (Genomics England Curator)
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.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Victorian Clinical Genetics Services
- Expert Review
- OMIM
- 614775
- Clinvar variants
- Variants in COA3
- Penetrance
- Complete
- Publications
-
- Ostergaard et al., 2015, J. Med. Genet., 52, 203-207.
- Panels with this gene
History Filter Activity
Added New Source, Status Update
Arina Puzriakova (Genomics England Curator)Source Expert Review Red was added to COA3. Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Added New Source
Sarah Leigh (Genomics England Curator)Victorian Clinical Genetics Services was added to COA3. Panel: Mitochondrial disorders
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Upload gene information
Ellen McDonagh (Genomics England Curator)COA3 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert Review
Approved Gene
Ellen McDonagh (Genomics England Curator)This proposed gene was validated and added to this panel
Added New Source
Carl Fratter (Oxford University Hospitals NHS Trust)COA3 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Literature