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Newborns main panel

Gene: COQ2

Green List (high evidence)
COQ2 (coenzyme Q2, polyprenyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000173085
EnsemblGeneIds (GRCh37): ENSG00000173085
OMIM: 609825, Gene2Phenotype
COQ2 is in 17 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: 33187544 - review 24 cases
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

7 Feb 2024, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: COQ2 were changed from Coenzyme Q10 deficiency, primary, 1 to COQ2 related primary coenzyme Q10 deficiency

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Coenzyme Q10 deficiency, primary, 1 for gene: COQ2

5 Jul 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to COQ2. Added phenotypes Coenzyme Q10 deficiency, primary, 1 for gene: COQ2 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to COQ2. Added phenotypes Coenzyme Q10 deficiency, primary, 1 for gene: COQ2 Rating Changed from No List (delete) to Amber List (moderate evidence)

5 May 2023, Gel status: 0

Added New Source, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Removed was added to COQ2. Rating Changed from Amber List (moderate evidence) to No List (delete)

9 Mar 2023, Gel status: 2

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Coenzyme Q10 deficiency, primary, 1 for gene: COQ2

9 Mar 2023, Gel status: 2

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: COQ2 was added gene: COQ2 was added to Newborns main panel. Sources: Expert Review Amber Mode of inheritance for gene: COQ2 was set to BIALLELIC, autosomal or pseudoautosomal