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Inborn errors of metabolism

Gene: COA3

Amber List (moderate evidence)

COA3 (cytochrome c oxidase assembly factor 3)
EnsemblGeneIds (GRCh38): ENSG00000183978
EnsemblGeneIds (GRCh37): ENSG00000183978
OMIM: 614775, Gene2Phenotype
COA3 is in 6 panels

3 reviews

Carl Fratter (Oxford University Hospitals NHS Trust)

I don't know

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)

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 Amber
Phenotypes
  • Ostergaard et al., 2015, J. Med. Genet., 52, 203-207.
OMIM
614775
Clinvar variants
Variants in COA3
Penetrance
None
Panels with this gene

History Filter Activity

8 Jan 2019, Gel status: 2

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with relevant pheno

16 Dec 2018, Gel status: 2

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

Ellen McDonagh (Genomics England Curator)

gene: COA3 was added gene: COA3 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: COA3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COA3 were set to Ostergaard et al., 2015, J. Med. Genet., 52, 203-207.