1. Panels
  2. Cardiomyopathy_Paediatric
  3. COQ9
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Cardiomyopathy_Paediatric

Gene: COQ9

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Coenzyme Q10 deficiency, primary, 5, MIM# 614654

Created: 15 Apr 2021, 10:50 a.m.
Last Modified: 15 Apr 2021, 10:50 a.m.
Panel version: 0.83

John Christodoulou (Murdoch Children's Research Institute)

Green List (high evidence)

Multiple independent reports of cases with cardiomyopathy of LVNC as features

see OMIM 614654
Sources: Literature
Created: 15 Apr 2021, 6:14 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
dev delay; hypothermia; seizures, cardiomyopathy; left ventricular noncompaction; truncal hypotonia; peripheral hypotonia; brain MRI abnormalities; microcephaly

Publications

Created: 15 Apr 2021, 6:14 a.m.

Panel version: 0.65

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Coenzyme Q10 deficiency, primary, 5, MIM# 614654
  • dev delay
  • hypothermia
  • seizures, cardiomyopathy
  • left ventricular noncompaction
  • truncal hypotonia
  • peripheral hypotonia
  • brain MRI abnormalities
  • microcephaly
OMIM
612837
Clinvar variants
Variants in COQ9
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

15 Apr 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: coq9 has been classified as Green List (High Evidence).

15 Apr 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: COQ9 were changed from dev delay; hypothermia; seizures, cardiomyopathy; left ventricular noncompaction; truncal hypotonia; peripheral hypotonia; brain MRI abnormalities; microcephaly to Coenzyme Q10 deficiency, primary, 5, MIM# 614654; dev delay; hypothermia; seizures, cardiomyopathy; left ventricular noncompaction; truncal hypotonia; peripheral hypotonia; brain MRI abnormalities; microcephaly

15 Apr 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: COQ9 were set to PMID: 31821167: PMID: 19375058: PMID: 29560582

15 Apr 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: coq9 has been classified as Green List (High Evidence).

15 Apr 2021, Gel status: 0

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

John Christodoulou (Murdoch Children's Research Institute)

gene: COQ9 was added gene: COQ9 was added to Cardiomyopathy_Paediatric. Sources: Literature Mode of inheritance for gene: COQ9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COQ9 were set to PMID: 31821167: PMID: 19375058: PMID: 29560582 Phenotypes for gene: COQ9 were set to dev delay; hypothermia; seizures, cardiomyopathy; left ventricular noncompaction; truncal hypotonia; peripheral hypotonia; brain MRI abnormalities; microcephaly Penetrance for gene: COQ9 were set to Complete Review for gene: COQ9 was set to GREEN