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BabyScreen+ newborn screening

Gene: COQ6

Green List (high evidence)

COQ6 (coenzyme Q6, monooxygenase)
EnsemblGeneIds (GRCh38): ENSG00000119723
EnsemblGeneIds (GRCh37): ENSG00000119723
OMIM: 614647, Gene2Phenotype
COQ6 is in 9 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Established gene-disease association.

Presentation in infancy with nephrotic syndrome.

Treatment: some respond to CoQ10

No confirmatory testing but likely to present clinically
Created: 4 Oct 2023, 1:42 a.m. | Last Modified: 4 Oct 2023, 1:42 a.m.
Panel Version: 1.46

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Coenzyme Q10 deficiency, primary, 6 MIM#614650

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BabySeq Category C gene
  • BeginNGS
Phenotypes
  • Coenzyme Q10 deficiency, primary, 6, MIM# 614650
Tags
treatable metabolic
OMIM
614647
Clinvar variants
Variants in COQ6
Penetrance
None
Panels with this gene

History Filter Activity

4 Oct 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: coq6 has been classified as Green List (High Evidence).

4 Oct 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: COQ6 were changed from Nephrotic syndrome with sensorineural deafness; Coenzyme Q10 deficiency, primary, 6, MIM# 614650 to Coenzyme Q10 deficiency, primary, 6, MIM# 614650

4 Oct 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: coq6 has been classified as Green List (High Evidence).

4 Oct 2023, Gel status: 1

Added Tag, Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: COQ6. Tag metabolic tag was added to gene: COQ6.

18 Sep 2022, Gel status: 1

Added New Source, Added New Source, Set Phenotypes, Status Update

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Source Expert Review Red was added to COQ6. Source BabySeq Category C gene was added to COQ6. Added phenotypes Nephrotic syndrome with sensorineural deafness for gene: COQ6 Rating Changed from Green List (high evidence) to Red List (low evidence)

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: COQ6 was added gene: COQ6 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: COQ6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COQ6 were set to Coenzyme Q10 deficiency, primary, 6, MIM# 614650