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  2. Monogenic Diabetes
  3. COQ9
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Monogenic Diabetes

Gene: COQ9

Red List (low evidence)
COQ9 (coenzyme Q9)
EnsemblGeneIds (GRCh38): ENSG00000088682
EnsemblGeneIds (GRCh37): ENSG00000088682
OMIM: 612837, Gene2Phenotype
COQ9 is in 10 panels

1 review

Hali Van Niel (University of Melbourne)

Red List (low evidence)

>3 unrelated individuals with COQ9 mutation associated with encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome (also referred to as Coenzyme Q10 deficiency, primary, 5)
No evidence of association with monogenic diabetes, none reported with this phenotype
Created: 2 May 2024, 3:14 a.m. | Last Modified: 2 May 2024, 3:14 a.m.
Panel Version: 0.58

Mode of inheritance
Unknown

Phenotypes
encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome MONDO:0013840

Publications

Created: 2 May 2024, 3:14 a.m.
Last Modified: 2 May 2024, 3:14 a.m.
Panel version: 0.58

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome MONDO:0013840
OMIM
612837
Clinvar variants
Variants in COQ9
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 May 2024, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: coq9 has been classified as Red List (Low Evidence).

2 May 2024, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: COQ9 were changed from Primary Coenzyme Q10 Deficiency; neonatal hyperglycaemia to encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome MONDO:0013840

2 May 2024, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: COQ9 were set to

17 Jan 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: COQ9 was added gene: COQ9 was added to Monogenic diabetes. Sources: Expert Review Red,NHS GMS Mode of inheritance for gene: COQ9 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COQ9 were set to Primary Coenzyme Q10 Deficiency; neonatal hyperglycaemia