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Possible mitochondrial disorder - nuclear genes

Gene: COQ7

Green List (high evidence)

COQ7 (coenzyme Q7, hydroxylase)
EnsemblGeneIds (GRCh38): ENSG00000167186
EnsemblGeneIds (GRCh37): ENSG00000167186
OMIM: 601683, Gene2Phenotype
COQ7 is in 6 panels

5 reviews

Sarah Leigh (Genomics England Curator)

Publications

Carl Fratter (Oxford University Hospitals NHS Trust)

Green List (high evidence)

Updated information and Green review collated by Carl Fratter May 2019 on behalf of GMS mitochondrial specialist test group: 3 unrelated individuals and functional studies
Created: 10 May 2019, 1:02 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Coenzyme Q10 deficiency, primary, 8, 616733

Publications

Ivone Leong (Genomics England Curator)

I don't know

Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.
Created: 4 Feb 2019, 1:36 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Coenzyme Q10 deficiency, primary, 8 616733

Publications

Ellen McDonagh (Genomics England Curator)

Comment on list classification: This gene was promoted from Amber to Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter. Three unrelated patients reported, with different variants causing amino acid changes.
Created: 10 May 2019, 1:28 p.m.
Comment on list classification: Added by reviewer who stated that there is one report in the literature - this should therefore be a red gene.
Created: 15 Feb 2016, 11:11 a.m.

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

single mutation report in literature
Created: 7 Feb 2016, 8:11 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • ?Coenzyme Q10 deficiency, primary, 8 616733
OMIM
601683
Clinvar variants
Variants in COQ7
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 May 2019, Gel status: 3

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: coq7 has been classified as Green List (High Evidence).

10 May 2019, Gel status: 3

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: coq7 has been classified as Green List (High Evidence).

10 May 2019, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for gene: COQ7 were set to 28409910

4 Feb 2019, Gel status: 2

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

Ivone Leong (Genomics England Curator)

gene: COQ7 was added gene: COQ7 was added to Possible mitochondrial disorder - nuclear genes. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: COQ7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COQ7 were set to 28409910 Phenotypes for gene: COQ7 were set to ?Coenzyme Q10 deficiency, primary, 8 616733