Monogenic Diabetes
Gene: COQ2EnsemblGeneIds (GRCh38): ENSG00000173085
EnsemblGeneIds (GRCh37): ENSG00000173085
OMIM: 609825, Gene2Phenotype
COQ2 is in 13 panels
1 review
Hali Van Niel (University of Melbourne)
Gene association with Coenzyme Q10 deficiency, primary, 1
PMID: 16400613: 1 patient with neonatal diabetes and COQ2 variant
PMID: 30337132: 4 patients from 2 unrelated families with neonatal diabetes and COQ2 variant
PMID: 26296322: functional study in rat model to conclude COQ2 candidate gene for diabetes
Casestudy: (E. Nazlı Gönç, Meltem Çakır. A Rare Case of Neonatal Diabetes due to COQ2 Gene Mutation. J Clin Res Pediatr Endocrinol. 2015; 7(1): 16-16)
2 siblings with COQ2 variant and neonatal diabetes
>3 patients with neonatal diabetes and COQ2, functional study in supportCreated: 9 May 2024, 3:23 a.m. | Last Modified: 9 May 2024, 3:23 a.m.
Panel Version: 0.107
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
neonatal diabetes mellitus MONDO:0016391; coenzyme Q10 deficiency, primary, 1 MONDO:0011829
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- coenzyme Q10 deficiency, primary, 1 MONDO:0011829
- OMIM
- 609825
- Clinvar variants
- Variants in COQ2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Regression
- Mackenzie's Mission_Reproductive Carrier Screening
- Leukodystrophy - paediatric
- Additional findings_Paediatric
- Prepair 1000+
- Monogenic Diabetes
- Liver Failure_Paediatric
- Proteinuria
- Mendeliome
- BabyScreen+ newborn screening
- Mitochondrial disease
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: coq2 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: COQ2 were changed from neonatal hyperglycaemia, Primary Coenzyme Q10 Deficiency to coenzyme Q10 deficiency, primary, 1 MONDO:0011829
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: COQ2 were set to
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: coq2 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: COQ2 was added gene: COQ2 was added to Monogenic diabetes. Sources: Expert Review Red,NHS GMS Mode of inheritance for gene: COQ2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COQ2 were set to neonatal hyperglycaemia, Primary Coenzyme Q10 Deficiency