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BabyScreen+ newborn screening

Gene: COQ7

Amber List (moderate evidence)
COQ7 (coenzyme Q7, hydroxylase)
EnsemblGeneIds (GRCh38): ENSG00000167186
EnsemblGeneIds (GRCh37): ENSG00000167186
OMIM: 601683, Gene2Phenotype
COQ7 is in 7 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Four families reported only.

Treatment: CoQ10 supplementation can limit disease progression and reverse some clinical manifestations. However this advice applies to the whole group of related conditions, and data on this particular condition in terms of natural history and response to treatment is currently limited.
Created: 5 Oct 2022, 11:26 p.m. | Last Modified: 19 Oct 2022, 6:50 a.m.
Panel Version: 0.586

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Coenzyme Q10 deficiency, primary, 8 MIM#616733

Created: 5 Oct 2022, 11:26 p.m.
Last Modified: 19 Oct 2022, 6:50 a.m.
Panel version: 0.586

John Christodoulou (Murdoch Children's Research Institute)

I don't know

not many cases described - early childhood onset, although presentation is quite variable

suggestion that CoQ10 supplementation could be of benefit (or maybe 2,4-dihydroxybenzoic acid)
Evidence for Treatment expert opinion
Reference 1 www.ncbi.nlm.nih.gov/books/NBK410087

Not convinced CoQ supplementation has a significant impact.


Experimental Treatment clinicaltrials.gov/ct2/results?cond=coenzyme+Q10+deficiency&term=&cntry=&state=&city=&dist=
Created: 28 Sep 2022, 4:46 a.m. | Last Modified: 28 Sep 2022, 4:46 a.m.
Panel Version: 0.266

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 28 Sep 2022, 4:46 a.m.
Last Modified: 28 Sep 2022, 4:46 a.m.
Panel version: 0.266

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • BeginNGS
Phenotypes
  • Coenzyme Q10 deficiency, primary, 8, MIM# 616733
Tags
for review
OMIM
601683
Clinvar variants
Variants in COQ7
Penetrance
None
Panels with this gene

History Filter Activity

19 Oct 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: coq7 has been classified as Amber List (Moderate Evidence).

5 Oct 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

5 Oct 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag for review tag was added to gene: COQ7.

18 Sep 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: COQ7 was added gene: COQ7 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: COQ7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COQ7 were set to Coenzyme Q10 deficiency, primary, 8, MIM# 616733