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  3. COQ6
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Mitochondrial disorders

Gene: COQ6

Green List (high evidence)
COQ6 (coenzyme Q6, monooxygenase)
EnsemblGeneIds (GRCh38): ENSG00000119723
EnsemblGeneIds (GRCh37): ENSG00000119723
OMIM: 614647, Gene2Phenotype
COQ6 is in 8 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Promoted from red to green due to expert review, and the association reported in more than 3 families in PMID: 21540551.
Created: 26 Feb 2016, 4:53 p.m.
Created: 26 Feb 2016, 4:50 p.m.

Panel version: 0.370

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

Created: 8 Feb 2016, 10:30 a.m.

Panel version: 0.37

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Expert
Phenotypes
  • Steroid-resistant nephrotic syndrome
  • Disorders of ubiquinone metabolism and biosynthesis
  • Coenzyme Q10 deficiency, primary, 6, 614650
OMIM
614647
Clinvar variants
Variants in COQ6
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

28 Aug 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

Victorian Clinical Genetics Services was added to COQ6. Panel: Mitochondrial disorders

22 Apr 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for COQ6 was changed to BIALLELIC, autosomal or pseudoautosomal

26 Feb 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 Feb 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for COQ6 were set to Steroid-resistant nephrotic syndrome; Disorders of ubiquinone metabolism and biosynthesis; Coenzyme Q10 deficiency, primary, 6, 614650

26 Feb 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 Feb 2016, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for COQ6 were set to PMID: 21540551

30 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

COQ6 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen

30 Jun 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

COQ6 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen

30 Jun 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

COQ6 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen