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Hereditary neuropathy NOT PMP22 copy number

Gene: COQ8A

Red List (low evidence)

COQ8A (coenzyme Q8A)
EnsemblGeneIds (GRCh38): ENSG00000163050
EnsemblGeneIds (GRCh37): ENSG00000163050
OMIM: 606980, Gene2Phenotype
COQ8A is in 17 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

5 Dec 2019, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: COQ8A was added gene: COQ8A was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: COQ8A was set to Phenotypes for gene: COQ8A were set to Hereditary Neuropathies