Hereditary ataxia

Gene: COQ8A

Green List (high evidence)

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

3 reviews

Louise Daugherty (Genomics England Curator)

added new-gene-name tag
Created: 9 Dec 2016, 1:39 p.m.

Damian Smedley (Genomics England Curator)

Comment on list classification: Evidence from expert reviewer and OMIM
Created: 4 Feb 2016, 2 p.m.

Jonathan Williams (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust)

Green List (high evidence)

Fine. Lots of evidence in literature, positives in our cohort
Created: 24 Nov 2015, 4:56 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Coenzyme Q10 deficiency, Spinocerebellar Ataxia Type

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

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, Spinocerebellar Ataxia Type 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: Hereditary ataxia

4 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

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

4 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

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

6 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene ADCK3 was changed to BIALLELIC, autosomal or pseudoautosomal

6 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

ADCK3 was added to Hereditary ataxiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN

6 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

ADCK3 was added to Hereditary ataxiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN