Genes in panel

Neurodegenerative disorders - adult onset

Gene: COQ2

Amber List (moderate evidence)

COQ2 (coenzyme Q2, polyprenyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000173085
EnsemblGeneIds (GRCh37): ENSG00000173085
OMIM: 609825, Gene2Phenotype
COQ2 is in 19 panels

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber
Created: 20 Sep 2019, 4:19 p.m. | Last Modified: 20 Sep 2019, 4:19 p.m.
Panel Version: 1.106
Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Created: 23 Jul 2019, 3:51 p.m. | Last Modified: 23 Jul 2019, 3:51 p.m.
Panel Version: 1.74

Nick Beauchamp (Sheffield Diagnostic Genetics Service)

I don't know

Association not clear.
Created: 23 Jul 2019, 3:35 p.m. | Last Modified: 23 Jul 2019, 3:35 p.m.
Panel Version: 1.72

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Multiple system atrophy, susceptibility to,146500

Publications

Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

23 Jul 2019, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: COQ2 were changed from 146500; Multiple system atrophy, susceptibility to to Multiple system atrophy, susceptibility to, 146500

23 Jul 2019, Gel status: 2

Set mode of inheritance, Set Phenotypes, Set publications

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene COQ2 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes 146500; Multiple system atrophy, susceptibility to for gene: COQ2 Publications for gene COQ2 were changed from to 23758206

23 Jul 2019, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to COQ2.

23 Jul 2019, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to COQ2.

23 Jul 2019, Gel status: 2

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: COQ2 was added gene: COQ2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Amber Mode of inheritance for gene: COQ2 was set to