This Panel is marked as Internal
DEMO Diabetes neonatal onset
Gene: COQ2
COQ2 (coenzyme Q2, polyprenyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000173085
EnsemblGeneIds (GRCh37): ENSG00000173085
OMIM: 609825, Gene2Phenotype
COQ2 is in 17 panels
EnsemblGeneIds (GRCh38): ENSG00000173085
EnsemblGeneIds (GRCh37): ENSG00000173085
OMIM: 609825, Gene2Phenotype
COQ2 is in 17 panels
2 reviews
Jayne Houghton (Royal Devon and Exeter Foundation Trust)
Neonatal hyperglycaemia is a rare feature of this disorder.Created: 25 Jan 2019, 1:31 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
neonatal hyperglycaemia, Primary Coenzyme Q10 Deficiency
Variants in this GENE are reported as part of current diagnostic practice
Ivone Leong (Genomics England Curator)
Initial gene list and info collated by Sian Ellard, University of Exeter Medical School, August 2018 on behalf of the GMS Endocrinology specialist test group. Gene Symbol submitted: COQ2; Suggested intial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given; Phenotypes: Isolated neonatal diabetes.Created: 11 Jan 2019, 4:27 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- NHS GMS
- Phenotypes
-
- neonatal hyperglycaemia, Primary Coenzyme Q10 Deficiency
- OMIM
- 609825
- Clinvar variants
- Variants in COQ2
- Penetrance
- None
- Panels with this gene
-
- Likely inborn error of metabolism
- Neonatal diabetes
- Undiagnosed metabolic disorders
- Adult onset neurodegenerative disorder
- Inherited white matter disorders
- Childhood onset dystonia, chorea or related movement disorder
- Mitochondrial disorders
- Retinal disorders
- Familial dysautonomia
- Unexplained kidney failure in young people
- Intellectual disability
- Possible mitochondrial disorder - nuclear genes
- Proteinuric renal disease
- Early onset or syndromic epilepsy
- Fetal anomalies
- DDG2P
- White matter disorders and cerebral calcification - narrow panel
History Filter Activity
2 Dec 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: COQ2 was added gene: COQ2 was added to DEMO Diabetes - neonatal onset. Sources: 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