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Newborns main panel

Gene: COQ9

Green List (high evidence)
COQ9 (coenzyme Q9)
EnsemblGeneIds (GRCh38): ENSG00000088682
EnsemblGeneIds (GRCh37): ENSG00000088682
OMIM: 612837, Gene2Phenotype
COQ9 is in 13 panels

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
PMID: 29560582 - 1 family PMID: 26081641 - 1 case PMID: 19375058 - 1 case
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

History Filter Activity

31 Dec 2025, Gel status: 3

Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source Expert Review Green was added to COQ9. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

14 Sep 2023, Gel status: 2

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Coenzyme Q10 deficiency, primary, 5 for gene: COQ9

5 Jul 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to COQ9. Added phenotypes Coenzyme Q10 deficiency, primary, 5 for gene: COQ9 Rating Changed from Red List (low evidence) to Amber List (moderate evidence)

31 May 2023, Gel status: 1

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Red was added to COQ9. Added phenotypes Coenzyme Q10 deficiency, primary, 5 for gene: COQ9 Rating Changed from No List (delete) to Red List (low evidence)

5 May 2023, Gel status: 0

Added New Source, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Removed was added to COQ9. Rating Changed from Red List (low evidence) to No List (delete)

9 Mar 2023, Gel status: 1

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Coenzyme Q10 deficiency, primary, 5 for gene: COQ9

9 Mar 2023, Gel status: 1

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: COQ9 was added gene: COQ9 was added to Newborns main panel. Sources: Expert Review Red Mode of inheritance for gene: COQ9 was set to BIALLELIC, autosomal or pseudoautosomal