Genes in panel

Hereditary neuropathy

Gene: COQ8A

Red List (low evidence)

COQ8A (coenzyme Q8A)
EnsemblGeneIds (GRCh38): ENSG00000163050
EnsemblGeneIds (GRCh37): ENSG00000163050
OMIM: 606980, Gene2Phenotype
COQ8A is in 18 panels

5 reviews

Natalie Forrester (SWGLH - Bristol Genetics)

Red List (low evidence)

Unable to find any evidence of clear neuropathy association
Created: 29 Apr 2019, 12:30 p.m.

Phenotypes
Hereditary Neuropathies

Louise Daugherty (Genomics England Curator)

I don't know

Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Created: 29 Apr 2019, 12:53 p.m.
added new-gene-name tag
Created: 9 Dec 2016, 1:39 p.m.

Rita Horvath (Institute of Genetic Medicine, Newcastle University)

Red List (low evidence)

neuropathy not common
Created: 9 Dec 2015, 4:47 p.m.

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

Alexander Rossor (UCL Institute of Neurology)

Co enzyme Q10 deficiency
Created: 9 Dec 2015, 8:49 a.m.

Mary Reilly (Institute of Neurology)

Co enzyme Q10 deficiency
Created: 8 Dec 2015, 3:05 p.m.

History Filter Activity

29 Apr 2019, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Hereditary Neuropathies for gene: COQ8A

29 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to COQ8A.

29 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source South West GLH was added to COQ8A.

5 Nov 2017, Gel status: 1

Changed Gene Name

GEL ()

ADCK3 was changed to COQ8A

5 Nov 2017, Gel status: 1

Removed Tag

GEL ()

new-gene-name was removed from ADCK3. Panel: Charcot-Marie-Tooth disease

20 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

ADCK3 was added to Charcot-Marie-Tooth diseasepanel. Sources: Emory Genetics Laboratory