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Mitochondrial disease

Gene: COQ7

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

2 reviews

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

4 families
Created: 4 May 2022, 2:37 a.m. | Last Modified: 4 May 2022, 2:37 a.m.
Panel Version: 0.13678

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Coenzyme Q10 deficiency, primary, 8 MIM#616733

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 4 May 2022, 2:37 a.m.
Last Modified: 4 May 2022, 2:37 a.m.
Panel version: Imported from Mendeliome panel version 0.13678

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

COQ7 encodes an enzyme that catalyses a critical step in CoQ10 biosynthesis. Three unrelated cases have been reported with this condition.
Sources: Expert list
Created: 26 Feb 2020, 5:49 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Coenzyme Q10 deficiency, primary, 8 MIM#616733

Publications

Created: 26 Feb 2020, 5:49 a.m.

Panel version: 0.94

Details

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

History Filter Activity

18 Mar 2020, 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).

26 Feb 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

26 Feb 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: COQ7 was added gene: COQ7 was added to Mitochondrial disease. Sources: Expert list Mode of inheritance for gene: COQ7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COQ7 were set to 31240163 Phenotypes for gene: COQ7 were set to Coenzyme Q10 deficiency, primary, 8 MIM#616733 Review for gene: COQ7 was set to GREEN