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  3. COQ5
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Retinal disorders

Gene: COQ5

Amber List (moderate evidence)
COQ5 (coenzyme Q5, methyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000110871
EnsemblGeneIds (GRCh37): ENSG00000110871
OMIM: 616359, Gene2Phenotype
COQ5 is in 5 panels

1 review

Sarah Leigh (Genomics England Curator)

I don't know

Comment on list classification: There is enough evidence for this gene to be rated amber.
Created: 25 Oct 2022, 11:18 a.m. | Last Modified: 25 Oct 2022, 11:18 a.m.
Panel Version: 2.293
Associated with Coenzyme Q10 deficiency, primary, 9, OMIM:619028 and as limited Gen2Phen gene for this condition. PMID: 36266294 reports three variants in two unrelated cases with retinitis pigmentosa.
Sources: Literature
Created: 25 Oct 2022, 11:17 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Coenzyme Q10 deficiency, primary, 9, OMIM:619028; coenzyme q10 deficiency, primary, 9, MONDO:0033615

Publications

Created: 25 Oct 2022, 11:17 a.m.

Panel version: 2.292

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • ?Coenzyme Q10 deficiency, primary, 9, OMIM:619028
  • coenzyme q10 deficiency, primary, 9, MONDO:0033615
OMIM
616359
Clinvar variants
Variants in COQ5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

25 Oct 2022, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: coq5 has been classified as Amber List (Moderate Evidence).

25 Oct 2022, Gel status: 1

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

Sarah Leigh (Genomics England Curator)

gene: COQ5 was added gene: COQ5 was added to Retinal disorders. Sources: Literature Mode of inheritance for gene: COQ5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COQ5 were set to 36266294 Phenotypes for gene: COQ5 were set to ?Coenzyme Q10 deficiency, primary, 9, OMIM:619028; coenzyme q10 deficiency, primary, 9, MONDO:0033615 Review for gene: COQ5 was set to AMBER