Inherited white matter disorders

Gene: COQ8A

Green List (high evidence)

COQ8A (coenzyme Q8A)
EnsemblGeneIds (GRCh38): ENSG00000163050
EnsemblGeneIds (GRCh37): ENSG00000163050
OMIM: 606980, Gene2Phenotype
COQ8A is in 19 panels

2 reviews

Louise Daugherty (Genomics England Curator)

added new-gene-name tag
Created: 9 Dec 2016, 1:36 p.m.

Ellen McDonagh (Genomics England Curator)

The HGNC-approved symbol for this gene is now COQ8A.
Created: 26 Aug 2016, 11:33 a.m.
Comment on list classification: Gene rated green and diagnostic-grade by expert reviewer, (is on the Combined leukodystrophy/mitochondrial leukoencephalopathy 94-gene panel submitted to the UKGTN by Leeds Genetics Laboratory). It is a confirmed DD gene for COENZYME Q10 DEFICIENCY, more than 3 unrelated cases with different variants reported in OMIM. On the Minimum recommended gene list for broad spectrum genetic testing for single-nucleotide variants associated with leukodystrophies and genetic leukoencephalopathies reported in PMID: 25655951 for Coenzyme Q10 deficiency, primary, 4. Green gene in the Mitochondrial panel version 1.10.
Created: 26 Aug 2016, 11:32 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Coenzyme Q10 deficiency, primary, 4

Publications

History Filter Activity

9 Jan 2019, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: COQ8A were changed from Coenzyme Q10 deficiency, primary, 4 to Coenzyme Q10 deficiency, primary 4, 612016; Spinocerebellar Ataxia Type

5 Nov 2017, Gel status: 4

Changed Gene Name

GEL ()

ADCK3 was changed to COQ8A

5 Nov 2017, Gel status: 4

Removed Tag

GEL ()

new-gene-name was removed from ADCK3. Panel: Inherited white matter disorders

6 Oct 2016, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

6th Oct 2016: Panel promoted to version 1 after expert review and input, further curation and clinical input.

26 Aug 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

26 Aug 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

26 Aug 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

ADCK3 was created by ellenmcdonagh

26 Aug 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

ADCK3 was added to Inherited white matter disorderspanel. Sources: Expert list