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BabyScreen+ newborn screening

Gene: COQ4

Green List (high evidence)

COQ4 (coenzyme Q4)
EnsemblGeneIds (GRCh38): ENSG00000167113
EnsemblGeneIds (GRCh37): ENSG00000167113
OMIM: 612898, Gene2Phenotype
COQ4 is in 13 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

At least 9 unrelated families reported.

Primary coenzyme Q10 deficiency-7 (COQ10D7) is an autosomal recessive disorder resulting from mitochondrial dysfunction. Most patients have onset of severe cardiac or neurologic symptoms soon after birth. IUGR reported.

Treatment: CoQ10 supplementation can limit disease progression and reverse some clinical manifestations.
Created: 5 Oct 2022, 11:12 p.m. | Last Modified: 5 Oct 2022, 11:12 p.m.
Panel Version: 0.309

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Coenzyme Q10 deficiency, primary, 7, MIM# 616276

John Christodoulou (Murdoch Children's Research Institute)

I don't know

severe early onset disorder of CoQ synthesis

CoQ10 supplementation may be of benefit


Reference 1 www.ncbi.nlm.nih.gov/books/NBK410087

Registered in Clinical Trials.gov, but not much in the way of clinical trials happening
https://clinicaltrials.gov/ct2/results?cond=coenzyme+Q10+deficiency&term=&cntry=&state=&city=&dist=
Created: 28 Sep 2022, 4:34 a.m. | Last Modified: 28 Sep 2022, 4:34 a.m.
Panel Version: 0.266

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BeginNGS
Phenotypes
  • Coenzyme Q10 deficiency, primary, 7, MIM# 616276
Tags
treatable metabolic
OMIM
612898
Clinvar variants
Variants in COQ4
Penetrance
None
Panels with this gene

History Filter Activity

27 Dec 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag metabolic tag was added to gene: COQ4.

5 Oct 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: coq4 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 treatable tag was added to gene: COQ4.

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: COQ4 was added gene: COQ4 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: COQ4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COQ4 were set to Coenzyme Q10 deficiency, primary, 7, MIM# 616276