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Possible mitochondrial disorder - nuclear genes

Gene: COQ8A

Green List (high evidence)

COQ8A (coenzyme Q8A)
EnsemblGeneIds (GRCh38): ENSG00000163050
EnsemblGeneIds (GRCh37): ENSG00000163050
OMIM: 606980, Gene2Phenotype
COQ8A is in 17 panels

4 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

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
BIALLELIC, autosomal or pseudoautosomal

Coenzyme Q10 deficiency, primary, 4, 612016

Louise Daugherty (Genomics England Curator)

added new-gene-name tag
Created: 9 Dec 2016, 1:24 p.m.

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: Source: G2P and OMIM.
Created: 10 Feb 2016, 10:58 a.m.
Comment on list classification: Confirmed DD gene for Coenzyme Q10 deficiency, and expert review states this should be promoted from red to green.
Created: 10 Feb 2016, 10:57 a.m.
This gene was submitted as "CABC1" in the expert list, which is likely to correspond to this HGNC-approved symbol.
Created: 1 Jul 2015, 10:42 a.m.

History Filter Activity

4 Feb 2019, Gel status: 4

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

Ivone Leong (Genomics England Curator)

gene: COQ8A was added gene: COQ8A was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: COQ8A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COQ8A were set to Coenzyme Q10 deficiency, primary, 4, 612016